SNP Links for Protein (Select 1034640940) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:17813094 (GRCh38)
4:17814717 (GRCh37)
Canonical SPDI:: NC_000004.12:17813093:G:A
Gene:: NCAPG (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000004.12:g.17813094G>A, NC_000004.11:g.17814717G>A, NM_022346.5:c.493G>A, NM_022346.4:c.493G>A, XM_017008543.3:c.493G>A, XM_017008543.2:c.493G>A, XM_017008543.1:c.493G>A, NR_073124.2:n.592G>A, NR_073124.1:n.758G>A, NP_071741.2:p.Ala165Thr, XP_016864032.1:p.Ala165Thr

Select item 14843144689.

rs1484314468 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:17817346 (GRCh38)
4:17818969 (GRCh37)
Canonical SPDI:: NC_000004.12:17817345:G:T
Gene:: NCAPG (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.17817346G>T, NC_000004.11:g.17818969G>T, NM_022346.5:c.861G>T, NM_022346.4:c.861G>T, XM_017008543.3:c.861G>T, XM_017008543.2:c.861G>T, XM_017008543.1:c.861G>T, NR_073124.2:n.875G>T, NR_073124.1:n.1041G>T, XM_047416072.1:c.174G>T, XM_047416073.1:c.174G>T

Select item 148407296110.

rs1484072961 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:17812997 (GRCh38)
4:17814620 (GRCh37)
Canonical SPDI:: NC_000004.12:17812996:T:G
Gene:: NCAPG (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.17812997T>G, NC_000004.11:g.17814620T>G, NM_022346.5:c.396T>G, NM_022346.4:c.396T>G, XM_017008543.3:c.396T>G, XM_017008543.2:c.396T>G, XM_017008543.1:c.396T>G, NR_073124.2:n.495T>G, NR_073124.1:n.661T>G, NP_071741.2:p.Asn132Lys, XP_016864032.1:p.Asn132Lys

Select item 148233637511.

rs1482336375 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:17812977 (GRCh38)
4:17814600 (GRCh37)
Canonical SPDI:: NC_000004.12:17812976:T:C
Gene:: NCAPG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.17812977T>C, NC_000004.11:g.17814600T>C, NM_022346.5:c.376T>C, NM_022346.4:c.376T>C, XM_017008543.3:c.376T>C, XM_017008543.2:c.376T>C, XM_017008543.1:c.376T>C, NR_073124.2:n.475T>C, NR_073124.1:n.641T>C

Select item 148131767412.

rs1481317674 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 4:17837173 (GRCh38)
4:17838796 (GRCh37)
Canonical SPDI:: NC_000004.12:17837172:G:C,NC_000004.12:17837172:G:T
Gene:: NCAPG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.17837173G>C, NC_000004.12:g.17837173G>T, NC_000004.11:g.17838796G>C, NC_000004.11:g.17838796G>T, NM_022346.5:c.2124G>C, NM_022346.5:c.2124G>T, NM_022346.4:c.2124G>C, NM_022346.4:c.2124G>T, XM_017008543.3:c.2130G>C, XM_017008543.3:c.2130G>T, XM_017008543.2:c.2130G>C, XM_017008543.2:c.2130G>T, XM_017008543.1:c.2130G>C, XM_017008543.1:c.2130G>T, NR_073124.2:n.2113G>C, NR_073124.2:n.2113G>T, NR_073124.1:n.2279G>C, NR_073124.1:n.2279G>T, XM_047416072.1:c.1443G>C, XM_047416072.1:c.1443G>T, XM_047416073.1:c.1437G>C, XM_047416073.1:c.1437G>T, NP_071741.2:p.Arg708Ser, NP_071741.2:p.Arg708Ser, XP_016864032.1:p.Arg710Ser, XP_016864032.1:p.Arg710Ser, XP_047272028.1:p.Arg481Ser, XP_047272028.1:p.Arg481Ser, XP_047272029.1:p.Arg479Ser, XP_047272029.1:p.Arg479Ser

Select item 148010635713.

rs1480106357 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:17818012 (GRCh38)
4:17819635 (GRCh37)
Canonical SPDI:: NC_000004.12:17818011:T:G
Gene:: NCAPG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.17818012T>G, NC_000004.11:g.17819635T>G, NM_022346.5:c.1042T>G, NM_022346.4:c.1042T>G, XM_017008543.3:c.1042T>G, XM_017008543.2:c.1042T>G, XM_017008543.1:c.1042T>G, NR_073124.2:n.1056T>G, NR_073124.1:n.1222T>G, XM_047416072.1:c.355T>G, XM_047416073.1:c.355T>G, NP_071741.2:p.Ser348Ala, XP_016864032.1:p.Ser348Ala, XP_047272028.1:p.Ser119Ala, XP_047272029.1:p.Ser119Ala

Select item 147740568314.

rs1477405683 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:17837311 (GRCh38)
4:17838934 (GRCh37)
Canonical SPDI:: NC_000004.12:17837310:G:A
Gene:: NCAPG (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.17837311G>A, NC_000004.11:g.17838934G>A, NM_022346.5:c.2262G>A, NM_022346.4:c.2262G>A, XM_017008543.3:c.2268G>A, XM_017008543.2:c.2268G>A, XM_017008543.1:c.2268G>A, NR_073124.2:n.2251G>A, NR_073124.1:n.2417G>A, XM_047416072.1:c.1581G>A, XM_047416073.1:c.1575G>A

Select item 147696661415.

rs1476966614 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:17828282 (GRCh38)
4:17829905 (GRCh37)
Canonical SPDI:: NC_000004.12:17828281:A:G
Gene:: NCAPG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.17828282A>G, NC_000004.11:g.17829905A>G, NM_022346.5:c.1658A>G, NM_022346.4:c.1658A>G, XM_017008543.3:c.1664A>G, XM_017008543.2:c.1664A>G, XM_017008543.1:c.1664A>G, NR_073124.2:n.1647A>G, NR_073124.1:n.1813A>G, XM_047416072.1:c.977A>G, XM_047416073.1:c.971A>G, NP_071741.2:p.Asp553Gly, XP_016864032.1:p.Asp555Gly, XP_047272028.1:p.Asp326Gly, XP_047272029.1:p.Asp324Gly

Select item 147628393316.

rs1476283933 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:17813095 (GRCh38)
4:17814718 (GRCh37)
Canonical SPDI:: NC_000004.12:17813094:C:T
Gene:: NCAPG (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.17813095C>T, NC_000004.11:g.17814718C>T, NM_022346.5:c.494C>T, NM_022346.4:c.494C>T, XM_017008543.3:c.494C>T, XM_017008543.2:c.494C>T, XM_017008543.1:c.494C>T, NR_073124.2:n.593C>T, NR_073124.1:n.759C>T, NP_071741.2:p.Ala165Val, XP_016864032.1:p.Ala165Val

Select item 147309801417.

rs1473098014 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:17840621 (GRCh38)
4:17842244 (GRCh37)
Canonical SPDI:: NC_000004.12:17840620:G:A
Gene:: NCAPG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.17840621G>A, NC_000004.11:g.17842244G>A, NG_015822.2:g.186240C>T, NM_022346.5:c.2782G>A, NM_022346.4:c.2782G>A, XM_017008543.3:c.2788G>A, XM_017008543.2:c.2788G>A, XM_017008543.1:c.2788G>A, NR_073124.2:n.2771G>A, NR_073124.1:n.2937G>A, XM_047416072.1:c.2101G>A, XM_047416073.1:c.2095G>A, NP_071741.2:p.Val928Ile, XP_016864032.1:p.Val930Ile, XP_047272028.1:p.Val701Ile, XP_047272029.1:p.Val699Ile

Select item 147080986918.

rs1470809869 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAA>- [Show Flanks]
Chromosome:: 4:17825021 (GRCh38)
4:17826644 (GRCh37)
Canonical SPDI:: NC_000004.12:17825017:TAATAA:TAA
Gene:: NCAPG (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: TAATAA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.17825018TAA[1], NC_000004.11:g.17826641TAA[1], NM_022346.5:c.1434TAA[1], NM_022346.4:c.1434TAA[1], XM_017008543.3:c.1434TAA[1], XM_017008543.2:c.1434TAA[1], XM_017008543.1:c.1434TAA[1], NR_073124.2:n.1423TAA[1], NR_073124.1:n.1589TAA[1], XM_047416072.1:c.747TAA[1], XM_047416073.1:c.747TAA[1], NP_071741.2:p.Asn480del, XP_016864032.1:p.Asn480del, XP_047272028.1:p.Asn251del, XP_047272029.1:p.Asn251del

Select item 146836105819.

rs1468361058 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:17823688 (GRCh38)
4:17825311 (GRCh37)
Canonical SPDI:: NC_000004.12:17823687:C:T
Gene:: NCAPG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.17823688C>T, NC_000004.11:g.17825311C>T, NM_022346.5:c.1301C>T, NM_022346.4:c.1301C>T, XM_017008543.3:c.1301C>T, XM_017008543.2:c.1301C>T, XM_017008543.1:c.1301C>T, NR_073124.2:n.1290C>T, NR_073124.1:n.1456C>T, XM_047416072.1:c.614C>T, XM_047416073.1:c.614C>T, NP_071741.2:p.Pro434Leu, XP_016864032.1:p.Pro434Leu, XP_047272028.1:p.Pro205Leu, XP_047272029.1:p.Pro205Leu

Select item 146815453820.

rs1468154538 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:17818013 (GRCh38)
4:17819636 (GRCh37)
Canonical SPDI:: NC_000004.12:17818012:C:G
Gene:: NCAPG (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000004.12:g.17818013C>G, NC_000004.11:g.17819636C>G, NM_022346.5:c.1043C>G, NM_022346.4:c.1043C>G, XM_017008543.3:c.1043C>G, XM_017008543.2:c.1043C>G, XM_017008543.1:c.1043C>G, NR_073124.2:n.1057C>G, NR_073124.1:n.1223C>G, XM_047416072.1:c.356C>G, XM_047416073.1:c.356C>G, NP_071741.2:p.Ser348Ter, XP_016864032.1:p.Ser348Ter, XP_047272028.1:p.Ser119Ter, XP_047272029.1:p.Ser119Ter

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