SNP Links for Protein (Select 1139347360) - SNP - NCBI

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Links from Protein

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Select item 14904994401.

rs1490499440 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:52770665 (GRCh38)
3:52804681 (GRCh37)
Canonical SPDI:: NC_000003.12:52770664:C:A
Gene:: NEK4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00009/3 (ALFA)
A=0.000018/3 (GnomAD_exomes)
A=0.000043/6 (GnomAD)
HGVS:: NC_000003.12:g.52770665C>A, NC_000003.11:g.52804681C>A, NG_053026.1:g.5285G>T, NM_003157.6:c.82G>T, NM_003157.5:c.82G>T, NM_003157.4:c.82G>T, NM_001193533.3:c.82G>T, NM_001193533.2:c.82G>T, NM_001193533.1:c.82G>T, NM_001348414.2:c.-127G>T, NM_001348414.1:c.-127G>T, NM_001348412.2:c.82G>T, NM_001348412.1:c.82G>T, NM_001348413.2:c.82G>T, NM_001348413.1:c.82G>T, XM_011534039.4:c.82G>T, XM_011534039.3:c.82G>T, XM_011534039.2:c.82G>T, XM_011534039.1:c.82G>T, XM_011534040.4:c.82G>T, XM_011534040.3:c.82G>T, XM_011534040.2:c.82G>T, XM_011534040.1:c.82G>T, XM_017007085.2:c.82G>T, XM_017007085.1:c.82G>T, XM_017007086.2:c.82G>T, XM_017007086.1:c.82G>T, XM_047448772.1:c.82G>T, XM_047448774.1:c.82G>T, NP_003148.2:p.Asp28Tyr, NP_001180462.1:p.Asp28Tyr, NP_001335341.1:p.Asp28Tyr, NP_001335342.1:p.Asp28Tyr, XP_011532341.1:p.Asp28Tyr, XP_011532342.1:p.Asp28Tyr, XP_016862574.1:p.Asp28Tyr, XP_016862575.1:p.Asp28Tyr, XP_047304728.1:p.Asp28Tyr, XP_047304730.1:p.Asp28Tyr

Select item 14903245432.

rs1490324543 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:52746134 (GRCh38)
3:52780150 (GRCh37)
Canonical SPDI:: NC_000003.12:52746133:T:G
Gene:: NEK4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.52746134T>G, NC_000003.11:g.52780150T>G, NG_053026.1:g.29816A>C, NM_003157.6:c.1754A>C, NM_003157.5:c.1754A>C, NM_003157.4:c.1754A>C, NM_001193533.3:c.1487A>C, NM_001193533.2:c.1487A>C, NM_001193533.1:c.1487A>C, NM_001348414.2:c.1508A>C, NM_001348414.1:c.1508A>C, NM_001348412.2:c.1616A>C, NM_001348412.1:c.1616A>C, NM_001348413.2:c.1616A>C, NM_001348413.1:c.1616A>C, XM_011534039.4:c.1754A>C, XM_011534039.3:c.1754A>C, XM_011534039.2:c.1754A>C, XM_011534039.1:c.1754A>C, XM_011534040.4:c.1754A>C, XM_011534040.3:c.1754A>C, XM_011534040.2:c.1754A>C, XM_011534040.1:c.1754A>C, XM_017007085.2:c.1754A>C, XM_017007085.1:c.1754A>C, XM_017007086.2:c.1616A>C, XM_017007086.1:c.1616A>C, XM_047448772.1:c.1616A>C, XM_047448774.1:c.1616A>C, NP_003148.2:p.Glu585Ala, NP_001180462.1:p.Glu496Ala, NP_001335343.1:p.Glu503Ala, NP_001335341.1:p.Glu539Ala, NP_001335342.1:p.Glu539Ala, XP_011532341.1:p.Glu585Ala, XP_011532342.1:p.Glu585Ala, XP_016862574.1:p.Glu585Ala, XP_016862575.1:p.Glu539Ala, XP_047304728.1:p.Glu539Ala, XP_047304730.1:p.Glu539Ala

Select item 14900056333.

rs1490005633 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:52768597 (GRCh38)
3:52802613 (GRCh37)
Canonical SPDI:: NC_000003.12:52768596:A:G
Gene:: NEK4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.52768597A>G, NC_000003.11:g.52802613A>G, NG_053026.1:g.7353T>C, NM_003157.6:c.101T>C, NM_003157.5:c.101T>C, NM_003157.4:c.101T>C, NM_001348412.2:c.101T>C, NM_001348412.1:c.101T>C, NM_001348413.2:c.101T>C, NM_001348413.1:c.101T>C, XM_011534039.4:c.101T>C, XM_011534039.3:c.101T>C, XM_011534039.2:c.101T>C, XM_011534039.1:c.101T>C, XM_011534040.4:c.101T>C, XM_011534040.3:c.101T>C, XM_011534040.2:c.101T>C, XM_011534040.1:c.101T>C, XM_017007085.2:c.101T>C, XM_017007085.1:c.101T>C, XM_017007086.2:c.101T>C, XM_017007086.1:c.101T>C, XM_047448772.1:c.101T>C, XM_047448774.1:c.101T>C, NP_003148.2:p.Ile34Thr, NP_001335341.1:p.Ile34Thr, NP_001335342.1:p.Ile34Thr, XP_011532341.1:p.Ile34Thr, XP_011532342.1:p.Ile34Thr, XP_016862574.1:p.Ile34Thr, XP_016862575.1:p.Ile34Thr, XP_047304728.1:p.Ile34Thr, XP_047304730.1:p.Ile34Thr

Select item 14869665394.

rs1486966539 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:52770683 (GRCh38)
3:52804699 (GRCh37)
Canonical SPDI:: NC_000003.12:52770682:G:A
Gene:: NEK4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.52770683G>A, NC_000003.11:g.52804699G>A, NG_053026.1:g.5267C>T, NM_003157.6:c.64C>T, NM_003157.5:c.64C>T, NM_003157.4:c.64C>T, NM_001193533.3:c.64C>T, NM_001193533.2:c.64C>T, NM_001193533.1:c.64C>T, NM_001348414.2:c.-145C>T, NM_001348414.1:c.-145C>T, NM_001348412.2:c.64C>T, NM_001348412.1:c.64C>T, NM_001348413.2:c.64C>T, NM_001348413.1:c.64C>T, XM_011534039.4:c.64C>T, XM_011534039.3:c.64C>T, XM_011534039.2:c.64C>T, XM_011534039.1:c.64C>T, XM_011534040.4:c.64C>T, XM_011534040.3:c.64C>T, XM_011534040.2:c.64C>T, XM_011534040.1:c.64C>T, XM_017007085.2:c.64C>T, XM_017007085.1:c.64C>T, XM_017007086.2:c.64C>T, XM_017007086.1:c.64C>T, XM_047448772.1:c.64C>T, XM_047448774.1:c.64C>T, NP_003148.2:p.Leu22Phe, NP_001180462.1:p.Leu22Phe, NP_001335341.1:p.Leu22Phe, NP_001335342.1:p.Leu22Phe, XP_011532341.1:p.Leu22Phe, XP_011532342.1:p.Leu22Phe, XP_016862574.1:p.Leu22Phe, XP_016862575.1:p.Leu22Phe, XP_047304728.1:p.Leu22Phe, XP_047304730.1:p.Leu22Phe

Select item 14851803185.

rs1485180318 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:52746774 (GRCh38)
3:52780790 (GRCh37)
Canonical SPDI:: NC_000003.12:52746773:T:C
Gene:: NEK4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.52746774T>C, NC_000003.11:g.52780790T>C, NG_053026.1:g.29176A>G, NM_003157.6:c.1637A>G, NM_003157.5:c.1637A>G, NM_003157.4:c.1637A>G, NM_001193533.3:c.1370A>G, NM_001193533.2:c.1370A>G, NM_001193533.1:c.1370A>G, NM_001348414.2:c.1391A>G, NM_001348414.1:c.1391A>G, NM_001348412.2:c.1499A>G, NM_001348412.1:c.1499A>G, NM_001348413.2:c.1499A>G, NM_001348413.1:c.1499A>G, XM_011534039.4:c.1637A>G, XM_011534039.3:c.1637A>G, XM_011534039.2:c.1637A>G, XM_011534039.1:c.1637A>G, XM_011534040.4:c.1637A>G, XM_011534040.3:c.1637A>G, XM_011534040.2:c.1637A>G, XM_011534040.1:c.1637A>G, XM_017007085.2:c.1637A>G, XM_017007085.1:c.1637A>G, XM_017007086.2:c.1499A>G, XM_017007086.1:c.1499A>G, XM_047448772.1:c.1499A>G, XM_047448774.1:c.1499A>G, NP_003148.2:p.His546Arg, NP_001180462.1:p.His457Arg, NP_001335343.1:p.His464Arg, NP_001335341.1:p.His500Arg, NP_001335342.1:p.His500Arg, XP_011532341.1:p.His546Arg, XP_011532342.1:p.His546Arg, XP_016862574.1:p.His546Arg, XP_016862575.1:p.His500Arg, XP_047304728.1:p.His500Arg, XP_047304730.1:p.His500Arg

Select item 14846672976.

rs1484667297 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:52752102 (GRCh38)
3:52786118 (GRCh37)
Canonical SPDI:: NC_000003.12:52752101:T:C
Gene:: NEK4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.52752102T>C, NC_000003.11:g.52786118T>C, NG_053026.1:g.23848A>G, NM_003157.6:c.1198A>G, NM_003157.5:c.1198A>G, NM_003157.4:c.1198A>G, NM_001193533.3:c.931A>G, NM_001193533.2:c.931A>G, NM_001193533.1:c.931A>G, NM_001348414.2:c.952A>G, NM_001348414.1:c.952A>G, NM_001348412.2:c.1198A>G, NM_001348412.1:c.1198A>G, NM_001348413.2:c.1198A>G, NM_001348413.1:c.1198A>G, XM_011534039.4:c.1198A>G, XM_011534039.3:c.1198A>G, XM_011534039.2:c.1198A>G, XM_011534039.1:c.1198A>G, XM_011534040.4:c.1198A>G, XM_011534040.3:c.1198A>G, XM_011534040.2:c.1198A>G, XM_011534040.1:c.1198A>G, XM_017007085.2:c.1198A>G, XM_017007085.1:c.1198A>G, XM_017007086.2:c.1198A>G, XM_017007086.1:c.1198A>G, XM_047448772.1:c.1198A>G, XM_047448774.1:c.1198A>G, NP_003148.2:p.Ile400Val, NP_001180462.1:p.Ile311Val, NP_001335343.1:p.Ile318Val, NP_001335341.1:p.Ile400Val, NP_001335342.1:p.Ile400Val, XP_011532341.1:p.Ile400Val, XP_011532342.1:p.Ile400Val, XP_016862574.1:p.Ile400Val, XP_016862575.1:p.Ile400Val, XP_047304728.1:p.Ile400Val, XP_047304730.1:p.Ile400Val

Select item 14835901667.

rs1483590166 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:52741484 (GRCh38)
3:52775500 (GRCh37)
Canonical SPDI:: NC_000003.12:52741483:G:A
Gene:: NEK4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.000049/13 (TOPMED)
A=0.000057/8 (GnomAD)
HGVS:: NC_000003.12:g.52741484G>A, NC_000003.11:g.52775500G>A, NG_053026.1:g.34466C>T, NM_003157.6:c.2020C>T, NM_003157.5:c.2020C>T, NM_003157.4:c.2020C>T, NM_001193533.3:c.1753C>T, NM_001193533.2:c.1753C>T, NM_001193533.1:c.1753C>T, NM_001348414.2:c.1774C>T, NM_001348414.1:c.1774C>T, NM_001348412.2:c.1882C>T, NM_001348412.1:c.1882C>T, NM_001348413.2:c.1882C>T, NM_001348413.1:c.1882C>T, XM_011534039.4:c.2020C>T, XM_011534039.3:c.2020C>T, XM_011534039.2:c.2020C>T, XM_011534039.1:c.2020C>T, XM_017007085.2:c.2020C>T, XM_017007085.1:c.2020C>T, XM_017007086.2:c.1882C>T, XM_017007086.1:c.1882C>T, XM_047448772.1:c.1882C>T, NP_003148.2:p.His674Tyr, NP_001180462.1:p.His585Tyr, NP_001335343.1:p.His592Tyr, NP_001335341.1:p.His628Tyr, NP_001335342.1:p.His628Tyr, XP_011532341.1:p.His674Tyr, XP_016862574.1:p.His674Tyr, XP_016862575.1:p.His628Tyr, XP_047304728.1:p.His628Tyr

Select item 14832153618.

rs1483215361 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:52752085 (GRCh38)
3:52786101 (GRCh37)
Canonical SPDI:: NC_000003.12:52752084:T:C
Gene:: NEK4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.52752085T>C, NC_000003.11:g.52786101T>C, NG_053026.1:g.23865A>G, NM_003157.6:c.1215A>G, NM_003157.5:c.1215A>G, NM_003157.4:c.1215A>G, NM_001193533.3:c.948A>G, NM_001193533.2:c.948A>G, NM_001193533.1:c.948A>G, NM_001348414.2:c.969A>G, NM_001348414.1:c.969A>G, NM_001348412.2:c.1215A>G, NM_001348412.1:c.1215A>G, NM_001348413.2:c.1215A>G, NM_001348413.1:c.1215A>G, XM_011534039.4:c.1215A>G, XM_011534039.3:c.1215A>G, XM_011534039.2:c.1215A>G, XM_011534039.1:c.1215A>G, XM_011534040.4:c.1215A>G, XM_011534040.3:c.1215A>G, XM_011534040.2:c.1215A>G, XM_011534040.1:c.1215A>G, XM_017007085.2:c.1215A>G, XM_017007085.1:c.1215A>G, XM_017007086.2:c.1215A>G, XM_017007086.1:c.1215A>G, XM_047448772.1:c.1215A>G, XM_047448774.1:c.1215A>G

Select item 14830055859.

rs1483005585 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:52770736 (GRCh38)
3:52804752 (GRCh37)
Canonical SPDI:: NC_000003.12:52770735:G:A
Gene:: NEK4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.52770736G>A, NC_000003.11:g.52804752G>A, NG_053026.1:g.5214C>T, NM_003157.6:c.11C>T, NM_003157.5:c.11C>T, NM_003157.4:c.11C>T, NM_001193533.3:c.11C>T, NM_001193533.2:c.11C>T, NM_001193533.1:c.11C>T, NM_001348414.2:c.-198C>T, NM_001348414.1:c.-198C>T, NM_001348412.2:c.11C>T, NM_001348412.1:c.11C>T, NM_001348413.2:c.11C>T, NM_001348413.1:c.11C>T, XM_011534039.4:c.11C>T, XM_011534039.3:c.11C>T, XM_011534039.2:c.11C>T, XM_011534039.1:c.11C>T, XM_011534040.4:c.11C>T, XM_011534040.3:c.11C>T, XM_011534040.2:c.11C>T, XM_011534040.1:c.11C>T, XM_017007085.2:c.11C>T, XM_017007085.1:c.11C>T, XM_017007086.2:c.11C>T, XM_017007086.1:c.11C>T, XM_047448772.1:c.11C>T, XM_047448774.1:c.11C>T, NP_003148.2:p.Ala4Val, NP_001180462.1:p.Ala4Val, NP_001335341.1:p.Ala4Val, NP_001335342.1:p.Ala4Val, XP_011532341.1:p.Ala4Val, XP_011532342.1:p.Ala4Val, XP_016862574.1:p.Ala4Val, XP_016862575.1:p.Ala4Val, XP_047304728.1:p.Ala4Val, XP_047304730.1:p.Ala4Val

Select item 148048187410.

rs1480481874 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:52768453 (GRCh38)
3:52802469 (GRCh37)
Canonical SPDI:: NC_000003.12:52768452:A:G
Gene:: NEK4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.52768453A>G, NC_000003.11:g.52802469A>G, NG_053026.1:g.7497T>C, NM_003157.6:c.245T>C, NM_003157.5:c.245T>C, NM_003157.4:c.245T>C, NM_001348414.2:c.-2T>C, NM_001348414.1:c.-2T>C, NM_001348412.2:c.245T>C, NM_001348412.1:c.245T>C, NM_001348413.2:c.245T>C, NM_001348413.1:c.245T>C, XM_011534039.4:c.245T>C, XM_011534039.3:c.245T>C, XM_011534039.2:c.245T>C, XM_011534039.1:c.245T>C, XM_011534040.4:c.245T>C, XM_011534040.3:c.245T>C, XM_011534040.2:c.245T>C, XM_011534040.1:c.245T>C, XM_017007085.2:c.245T>C, XM_017007085.1:c.245T>C, XM_017007086.2:c.245T>C, XM_017007086.1:c.245T>C, XM_047448772.1:c.245T>C, XM_047448774.1:c.245T>C, NP_003148.2:p.Val82Ala, NP_001335341.1:p.Val82Ala, NP_001335342.1:p.Val82Ala, XP_011532341.1:p.Val82Ala, XP_011532342.1:p.Val82Ala, XP_016862574.1:p.Val82Ala, XP_016862575.1:p.Val82Ala, XP_047304728.1:p.Val82Ala, XP_047304730.1:p.Val82Ala

Select item 148006714811.

rs1480067148 [Homo sapiens]

Variant type:: INS
Alleles:: ->AGG [Show Flanks]
Chromosome:: 3:52768543 (GRCh38)
3:52802560 (GRCh37)
Canonical SPDI:: NC_000003.12:52768543::AGG
Gene:: NEK4 (Varview)
Functional Consequence:: inframe_indel,coding_sequence_variant,intron_variant,5_prime_UTR_variant,stop_gained
Validated:: by frequency,by cluster
MAF:: AGG=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.52768543_52768544insAGG, NC_000003.11:g.52802559_52802560insAGG, NG_053026.1:g.7406_7407insCCT, NM_003157.6:c.154_155insCCT, NM_003157.5:c.154_155insCCT, NM_003157.4:c.154_155insCCT, NM_001348414.2:c.-93_-92insCCT, NM_001348414.1:c.-93_-92insCCT, NM_001348412.2:c.154_155insCCT, NM_001348412.1:c.154_155insCCT, NM_001348413.2:c.154_155insCCT, NM_001348413.1:c.154_155insCCT, XM_011534039.4:c.154_155insCCT, XM_011534039.3:c.154_155insCCT, XM_011534039.2:c.154_155insCCT, XM_011534039.1:c.154_155insCCT, XM_011534040.4:c.154_155insCCT, XM_011534040.3:c.154_155insCCT, XM_011534040.2:c.154_155insCCT, XM_011534040.1:c.154_155insCCT, XM_017007085.2:c.154_155insCCT, XM_017007085.1:c.154_155insCCT, XM_017007086.2:c.154_155insCCT, XM_017007086.1:c.154_155insCCT, XM_047448772.1:c.154_155insCCT, XM_047448774.1:c.154_155insCCT, NP_003148.2:p.Gln52delinsProTer, NP_001335341.1:p.Gln52delinsProTer, NP_001335342.1:p.Gln52delinsProTer, XP_011532341.1:p.Gln52delinsProTer, XP_011532342.1:p.Gln52delinsProTer, XP_016862574.1:p.Gln52delinsProTer, XP_016862575.1:p.Gln52delinsProTer, XP_047304728.1:p.Gln52delinsProTer, XP_047304730.1:p.Gln52delinsProTer

Select item 148002365412.

rs1480023654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:52770671 (GRCh38)
3:52804687 (GRCh37)
Canonical SPDI:: NC_000003.12:52770670:G:A,NC_000003.12:52770670:G:T
Gene:: NEK4 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.52770671G>A, NC_000003.12:g.52770671G>T, NC_000003.11:g.52804687G>A, NC_000003.11:g.52804687G>T, NG_053026.1:g.5279C>T, NG_053026.1:g.5279C>A, NM_003157.6:c.76C>T, NM_003157.6:c.76C>A, NM_003157.5:c.76C>T, NM_003157.5:c.76C>A, NM_003157.4:c.76C>T, NM_003157.4:c.76C>A, NM_001193533.3:c.76C>T, NM_001193533.3:c.76C>A, NM_001193533.2:c.76C>T, NM_001193533.2:c.76C>A, NM_001193533.1:c.76C>T, NM_001193533.1:c.76C>A, NM_001348414.2:c.-133C>T, NM_001348414.2:c.-133C>A, NM_001348414.1:c.-133C>T, NM_001348414.1:c.-133C>A, NM_001348412.2:c.76C>T, NM_001348412.2:c.76C>A, NM_001348412.1:c.76C>T, NM_001348412.1:c.76C>A, NM_001348413.2:c.76C>T, NM_001348413.2:c.76C>A, NM_001348413.1:c.76C>T, NM_001348413.1:c.76C>A, XM_011534039.4:c.76C>T, XM_011534039.4:c.76C>A, XM_011534039.3:c.76C>T, XM_011534039.3:c.76C>A, XM_011534039.2:c.76C>T, XM_011534039.2:c.76C>A, XM_011534039.1:c.76C>T, XM_011534039.1:c.76C>A, XM_011534040.4:c.76C>T, XM_011534040.4:c.76C>A, XM_011534040.3:c.76C>T, XM_011534040.3:c.76C>A, XM_011534040.2:c.76C>T, XM_011534040.2:c.76C>A, XM_011534040.1:c.76C>T, XM_011534040.1:c.76C>A, XM_017007085.2:c.76C>T, XM_017007085.2:c.76C>A, XM_017007085.1:c.76C>T, XM_017007085.1:c.76C>A, XM_017007086.2:c.76C>T, XM_017007086.2:c.76C>A, XM_017007086.1:c.76C>T, XM_017007086.1:c.76C>A, XM_047448772.1:c.76C>T, XM_047448772.1:c.76C>A, XM_047448774.1:c.76C>T, XM_047448774.1:c.76C>A, NP_003148.2:p.Arg26Trp, NP_001180462.1:p.Arg26Trp, NP_001335341.1:p.Arg26Trp, NP_001335342.1:p.Arg26Trp, XP_011532341.1:p.Arg26Trp, XP_011532342.1:p.Arg26Trp, XP_016862574.1:p.Arg26Trp, XP_016862575.1:p.Arg26Trp, XP_047304728.1:p.Arg26Trp, XP_047304730.1:p.Arg26Trp

Select item 147917779013.

rs1479177790 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:52737583 (GRCh38)
3:52771599 (GRCh37)
Canonical SPDI:: NC_000003.12:52737582:C:T
Gene:: NEK4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.52737583C>T, NC_000003.11:g.52771599C>T, NG_053026.1:g.38367G>A, NM_001348413.2:c.2298G>A, NM_001348413.1:c.2298G>A

Select item 147761067714.

rs1477610677 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:52752281 (GRCh38)
3:52786297 (GRCh37)
Canonical SPDI:: NC_000003.12:52752280:G:A
Gene:: NEK4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.52752281G>A, NC_000003.11:g.52786297G>A, NG_053026.1:g.23669C>T, NM_003157.6:c.1019C>T, NM_003157.5:c.1019C>T, NM_003157.4:c.1019C>T, NM_001193533.3:c.752C>T, NM_001193533.2:c.752C>T, NM_001193533.1:c.752C>T, NM_001348414.2:c.773C>T, NM_001348414.1:c.773C>T, NM_001348412.2:c.1019C>T, NM_001348412.1:c.1019C>T, NM_001348413.2:c.1019C>T, NM_001348413.1:c.1019C>T, XM_011534039.4:c.1019C>T, XM_011534039.3:c.1019C>T, XM_011534039.2:c.1019C>T, XM_011534039.1:c.1019C>T, XM_011534040.4:c.1019C>T, XM_011534040.3:c.1019C>T, XM_011534040.2:c.1019C>T, XM_011534040.1:c.1019C>T, XM_017007085.2:c.1019C>T, XM_017007085.1:c.1019C>T, XM_017007086.2:c.1019C>T, XM_017007086.1:c.1019C>T, XM_047448772.1:c.1019C>T, XM_047448774.1:c.1019C>T, NP_003148.2:p.Ser340Leu, NP_001180462.1:p.Ser251Leu, NP_001335343.1:p.Ser258Leu, NP_001335341.1:p.Ser340Leu, NP_001335342.1:p.Ser340Leu, XP_011532341.1:p.Ser340Leu, XP_011532342.1:p.Ser340Leu, XP_016862574.1:p.Ser340Leu, XP_016862575.1:p.Ser340Leu, XP_047304728.1:p.Ser340Leu, XP_047304730.1:p.Ser340Leu

Select item 147749618015.

rs1477496180 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:52746881 (GRCh38)
3:52780897 (GRCh37)
Canonical SPDI:: NC_000003.12:52746880:A:C,NC_000003.12:52746880:A:G
Gene:: NEK4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.52746881A>C, NC_000003.12:g.52746881A>G, NC_000003.11:g.52780897A>C, NC_000003.11:g.52780897A>G, NG_053026.1:g.29069T>G, NG_053026.1:g.29069T>C, NM_003157.6:c.1530T>G, NM_003157.6:c.1530T>C, NM_003157.5:c.1530T>G, NM_003157.5:c.1530T>C, NM_003157.4:c.1530T>G, NM_003157.4:c.1530T>C, NM_001193533.3:c.1263T>G, NM_001193533.3:c.1263T>C, NM_001193533.2:c.1263T>G, NM_001193533.2:c.1263T>C, NM_001193533.1:c.1263T>G, NM_001193533.1:c.1263T>C, NM_001348414.2:c.1284T>G, NM_001348414.2:c.1284T>C, NM_001348414.1:c.1284T>G, NM_001348414.1:c.1284T>C, NM_001348412.2:c.1392T>G, NM_001348412.2:c.1392T>C, NM_001348412.1:c.1392T>G, NM_001348412.1:c.1392T>C, NM_001348413.2:c.1392T>G, NM_001348413.2:c.1392T>C, NM_001348413.1:c.1392T>G, NM_001348413.1:c.1392T>C, XM_011534039.4:c.1530T>G, XM_011534039.4:c.1530T>C, XM_011534039.3:c.1530T>G, XM_011534039.3:c.1530T>C, XM_011534039.2:c.1530T>G, XM_011534039.2:c.1530T>C, XM_011534039.1:c.1530T>G, XM_011534039.1:c.1530T>C, XM_011534040.4:c.1530T>G, XM_011534040.4:c.1530T>C, XM_011534040.3:c.1530T>G, XM_011534040.3:c.1530T>C, XM_011534040.2:c.1530T>G, XM_011534040.2:c.1530T>C, XM_011534040.1:c.1530T>G, XM_011534040.1:c.1530T>C, XM_017007085.2:c.1530T>G, XM_017007085.2:c.1530T>C, XM_017007085.1:c.1530T>G, XM_017007085.1:c.1530T>C, XM_017007086.2:c.1392T>G, XM_017007086.2:c.1392T>C, XM_017007086.1:c.1392T>G, XM_017007086.1:c.1392T>C, XM_047448772.1:c.1392T>G, XM_047448772.1:c.1392T>C, XM_047448774.1:c.1392T>G, XM_047448774.1:c.1392T>C, NP_003148.2:p.Ile510Met, NP_001180462.1:p.Ile421Met, NP_001335343.1:p.Ile428Met, NP_001335341.1:p.Ile464Met, NP_001335342.1:p.Ile464Met, XP_011532341.1:p.Ile510Met, XP_011532342.1:p.Ile510Met, XP_016862574.1:p.Ile510Met, XP_016862575.1:p.Ile464Met, XP_047304728.1:p.Ile464Met, XP_047304730.1:p.Ile464Met

Select item 147609396316.

rs1476093963 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:52744241 (GRCh38)
3:52778257 (GRCh37)
Canonical SPDI:: NC_000003.12:52744240:G:C
Gene:: NEK4 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.52744241G>C, NC_000003.11:g.52778257G>C, NG_053026.1:g.31709C>G, NM_003157.6:c.1892C>G, NM_003157.5:c.1892C>G, NM_003157.4:c.1892C>G, NM_001193533.3:c.1625C>G, NM_001193533.2:c.1625C>G, NM_001193533.1:c.1625C>G, NM_001348414.2:c.1646C>G, NM_001348414.1:c.1646C>G, NM_001348412.2:c.1754C>G, NM_001348412.1:c.1754C>G, NM_001348413.2:c.1754C>G, NM_001348413.1:c.1754C>G, XM_011534039.4:c.1892C>G, XM_011534039.3:c.1892C>G, XM_011534039.2:c.1892C>G, XM_011534039.1:c.1892C>G, XM_011534040.4:c.1892C>G, XM_011534040.3:c.1892C>G, XM_011534040.2:c.1892C>G, XM_011534040.1:c.1892C>G, XM_017007085.2:c.1892C>G, XM_017007085.1:c.1892C>G, XM_017007086.2:c.1754C>G, XM_017007086.1:c.1754C>G, XM_047448772.1:c.1754C>G, XM_047448774.1:c.1754C>G, NP_003148.2:p.Ser631Ter, NP_001180462.1:p.Ser542Ter, NP_001335343.1:p.Ser549Ter, NP_001335341.1:p.Ser585Ter, NP_001335342.1:p.Ser585Ter, XP_011532341.1:p.Ser631Ter, XP_011532342.1:p.Ser631Ter, XP_016862574.1:p.Ser631Ter, XP_016862575.1:p.Ser585Ter, XP_047304728.1:p.Ser585Ter, XP_047304730.1:p.Ser585Ter

Select item 147595373217.

rs1475953732 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:52743449 (GRCh38)
3:52777465 (GRCh37)
Canonical SPDI:: NC_000003.12:52743448:C:T
Gene:: NEK4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.52743449C>T, NC_000003.11:g.52777465C>T, NG_053026.1:g.32501G>A, NM_003157.6:c.1907G>A, NM_003157.5:c.1907G>A, NM_003157.4:c.1907G>A, NM_001193533.3:c.1640G>A, NM_001193533.2:c.1640G>A, NM_001193533.1:c.1640G>A, NM_001348414.2:c.1661G>A, NM_001348414.1:c.1661G>A, NM_001348412.2:c.1769G>A, NM_001348412.1:c.1769G>A, NM_001348413.2:c.1769G>A, NM_001348413.1:c.1769G>A, XM_011534039.4:c.1907G>A, XM_011534039.3:c.1907G>A, XM_011534039.2:c.1907G>A, XM_011534039.1:c.1907G>A, XM_011534040.4:c.1907G>A, XM_011534040.3:c.1907G>A, XM_011534040.2:c.1907G>A, XM_011534040.1:c.1907G>A, XM_017007085.2:c.1907G>A, XM_017007085.1:c.1907G>A, XM_017007086.2:c.1769G>A, XM_017007086.1:c.1769G>A, XM_047448772.1:c.1769G>A, XM_047448774.1:c.1769G>A, NP_003148.2:p.Arg636Lys, NP_001180462.1:p.Arg547Lys, NP_001335343.1:p.Arg554Lys, NP_001335341.1:p.Arg590Lys, NP_001335342.1:p.Arg590Lys, XP_011532341.1:p.Arg636Lys, XP_011532342.1:p.Arg636Lys, XP_016862574.1:p.Arg636Lys, XP_016862575.1:p.Arg590Lys, XP_047304728.1:p.Arg590Lys, XP_047304730.1:p.Arg590Lys

Select item 147568723118.

rs1475687231 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:52746876 (GRCh38)
3:52780892 (GRCh37)
Canonical SPDI:: NC_000003.12:52746875:T:C
Gene:: NEK4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.52746876T>C, NC_000003.11:g.52780892T>C, NG_053026.1:g.29074A>G, NM_003157.6:c.1535A>G, NM_003157.5:c.1535A>G, NM_003157.4:c.1535A>G, NM_001193533.3:c.1268A>G, NM_001193533.2:c.1268A>G, NM_001193533.1:c.1268A>G, NM_001348414.2:c.1289A>G, NM_001348414.1:c.1289A>G, NM_001348412.2:c.1397A>G, NM_001348412.1:c.1397A>G, NM_001348413.2:c.1397A>G, NM_001348413.1:c.1397A>G, XM_011534039.4:c.1535A>G, XM_011534039.3:c.1535A>G, XM_011534039.2:c.1535A>G, XM_011534039.1:c.1535A>G, XM_011534040.4:c.1535A>G, XM_011534040.3:c.1535A>G, XM_011534040.2:c.1535A>G, XM_011534040.1:c.1535A>G, XM_017007085.2:c.1535A>G, XM_017007085.1:c.1535A>G, XM_017007086.2:c.1397A>G, XM_017007086.1:c.1397A>G, XM_047448772.1:c.1397A>G, XM_047448774.1:c.1397A>G, NP_003148.2:p.Glu512Gly, NP_001180462.1:p.Glu423Gly, NP_001335343.1:p.Glu430Gly, NP_001335341.1:p.Glu466Gly, NP_001335342.1:p.Glu466Gly, XP_011532341.1:p.Glu512Gly, XP_011532342.1:p.Glu512Gly, XP_016862574.1:p.Glu512Gly, XP_016862575.1:p.Glu466Gly, XP_047304728.1:p.Glu466Gly, XP_047304730.1:p.Glu466Gly

Select item 147538554119.

rs1475385541 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:52766350 (GRCh38)
3:52800366 (GRCh37)
Canonical SPDI:: NC_000003.12:52766349:T:A
Gene:: NEK4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.52766350T>A, NC_000003.11:g.52800366T>A, NG_053026.1:g.9600A>T, NM_003157.6:c.386A>T, NM_003157.5:c.386A>T, NM_003157.4:c.386A>T, NM_001193533.3:c.119A>T, NM_001193533.2:c.119A>T, NM_001193533.1:c.119A>T, NM_001348414.2:c.140A>T, NM_001348414.1:c.140A>T, NM_001348412.2:c.386A>T, NM_001348412.1:c.386A>T, NM_001348413.2:c.386A>T, NM_001348413.1:c.386A>T, XM_011534039.4:c.386A>T, XM_011534039.3:c.386A>T, XM_011534039.2:c.386A>T, XM_011534039.1:c.386A>T, XM_011534040.4:c.386A>T, XM_011534040.3:c.386A>T, XM_011534040.2:c.386A>T, XM_011534040.1:c.386A>T, XM_017007085.2:c.386A>T, XM_017007085.1:c.386A>T, XM_017007086.2:c.386A>T, XM_017007086.1:c.386A>T, XM_047448772.1:c.386A>T, XM_047448774.1:c.386A>T, NP_003148.2:p.His129Leu, NP_001180462.1:p.His40Leu, NP_001335343.1:p.His47Leu, NP_001335341.1:p.His129Leu, NP_001335342.1:p.His129Leu, XP_011532341.1:p.His129Leu, XP_011532342.1:p.His129Leu, XP_016862574.1:p.His129Leu, XP_016862575.1:p.His129Leu, XP_047304728.1:p.His129Leu, XP_047304730.1:p.His129Leu

Select item 147182905520.

rs1471829055 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:52737597 (GRCh38)
3:52771613 (GRCh37)
Canonical SPDI:: NC_000003.12:52737596:A:C
Gene:: NEK4 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.52737597A>C, NC_000003.11:g.52771613A>C, NG_053026.1:g.38353T>G, NM_003157.6:c.2422T>G, NM_003157.5:c.2422T>G, NM_003157.4:c.2422T>G, NM_001193533.3:c.2155T>G, NM_001193533.2:c.2155T>G, NM_001193533.1:c.2155T>G, NM_001348414.2:c.2176T>G, NM_001348414.1:c.2176T>G, NM_001348412.2:c.2284T>G, NM_001348412.1:c.2284T>G, NM_001348413.2:c.2284T>G, NM_001348413.1:c.2284T>G, XM_011534039.4:c.2422T>G, XM_011534039.3:c.2422T>G, XM_011534039.2:c.2422T>G, XM_011534039.1:c.2422T>G, XM_017007085.2:c.2422T>G, XM_017007085.1:c.2422T>G, XM_017007086.2:c.2284T>G, XM_017007086.1:c.2284T>G, XM_047448772.1:c.2284T>G, NP_003148.2:p.Phe808Val, NP_001180462.1:p.Phe719Val, NP_001335343.1:p.Phe726Val, NP_001335341.1:p.Phe762Val, NP_001335342.1:p.Phe762Val, XP_011532341.1:p.Phe808Val, XP_016862574.1:p.Phe808Val, XP_016862575.1:p.Phe762Val, XP_047304728.1:p.Phe762Val

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