SNP Links for Protein (Select 55770876) - SNP

Select item 14910002251.

rs1491000225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:32212543 (GRCh38)
6:32180320 (GRCh37)
Canonical SPDI:: NC_000006.12:32212542:G:T
Gene:: NOTCH4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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_000006.12:g.32212543G>T, NC_000006.11:g.32180320G>T, NG_028190.1:g.16525C>A, NM_004557.4:c.2611C>A, NM_004557.3:c.2611C>A, NR_134949.2:n.2852C>A, NR_134949.1:n.2852C>A, NR_134950.2:n.2750C>A, NR_134950.1:n.2750C>A, NT_113891.3:g.3650888G>T, NT_113891.2:g.3650994G>T, NT_167249.2:g.3528749G>T, NT_167249.1:g.3528047G>T, NT_167248.2:g.3435745G>T, NT_167248.1:g.3441341G>T, NT_167247.2:g.3554564G>T, NT_167247.1:g.3560149G>T, NT_167246.2:g.3517527G>T, NT_167246.1:g.3523147G>T, NP_004548.3:p.Leu871Ile

Select item 14907813582.

rs1490781358 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:32198541 (GRCh38)
6:32166318 (GRCh37)
Canonical SPDI:: NC_000006.12:32198540:G:T
Gene:: NOTCH4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000006.12:g.32198541G>T, NC_000006.11:g.32166318G>T, NG_028190.1:g.30527C>A, NM_004557.4:c.4636C>A, NM_004557.3:c.4636C>A, NR_134949.2:n.4344C>A, NR_134949.1:n.4344C>A, NR_134950.2:n.4242C>A, NR_134950.1:n.4242C>A, NT_113891.3:g.3636891G>T, NT_113891.2:g.3636997G>T, NT_167249.2:g.3514747G>T, NT_167249.1:g.3514045G>T, NT_167248.2:g.3421739G>T, NT_167248.1:g.3427335G>T, NT_167247.2:g.3540557G>T, NT_167247.1:g.3546142G>T, NT_167246.2:g.3503519G>T, NT_167246.1:g.3509139G>T, NT_167244.2:g.3531141G>T, NT_167244.1:g.3481057G>T, NP_004548.3:p.Pro1546Thr

Select item 14904936553.

rs1490493655 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:32202588 (GRCh38)
6:32170365 (GRCh37)
Canonical SPDI:: NC_000006.12:32202587:G:A,NC_000006.12:32202587:G:T
Gene:: NOTCH4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.32202588G>A, NC_000006.12:g.32202588G>T, NC_000006.11:g.32170365G>A, NC_000006.11:g.32170365G>T, NG_028190.1:g.26480C>T, NG_028190.1:g.26480C>A, NM_004557.4:c.3243C>T, NM_004557.4:c.3243C>A, NM_004557.3:c.3243C>T, NM_004557.3:c.3243C>A, NT_113891.3:g.3640948G>A, NT_113891.3:g.3640948G>T, NT_113891.2:g.3641054G>A, NT_113891.2:g.3641054G>T, NT_167249.2:g.3518805G>A, NT_167249.2:g.3518805G>T, NT_167249.1:g.3518103G>A, NT_167249.1:g.3518103G>T, NT_167248.2:g.3425796G>A, NT_167248.2:g.3425796G>T, NT_167248.1:g.3431392G>A, NT_167248.1:g.3431392G>T, NT_167247.2:g.3544614G>A, NT_167247.2:g.3544614G>T, NT_167247.1:g.3550199G>A, NT_167247.1:g.3550199G>T, NT_167246.2:g.3507571G>A, NT_167246.2:g.3507571G>T, NT_167246.1:g.3513191G>A, NT_167246.1:g.3513191G>T, NT_167244.2:g.3535199G>A, NT_167244.2:g.3535199G>T, NT_167244.1:g.3485115G>A, NT_167244.1:g.3485115G>T

Select item 14904480534.

rs1490448053 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGGT>- [Show Flanks]
Chromosome:: 6:32218076 (GRCh38)
6:32185853 (GRCh37)
Canonical SPDI:: NC_000006.12:32218073:GTTGGT:GT
Gene:: NOTCH4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.00008/1 (GoESP)
HGVS:: NC_000006.12:g.32218076_32218079del, NC_000006.11:g.32185853_32185856del, NG_028190.1:g.10991_10994del, NM_004557.4:c.1542_1545del, NM_004557.3:c.1542_1545del, NR_134949.2:n.1783_1786del, NR_134949.1:n.1783_1786del, NR_134950.2:n.1681_1684del, NR_134950.1:n.1681_1684del, NT_113891.3:g.3656422_3656425del, NT_113891.2:g.3656528_3656531del, NT_167249.2:g.3534284_3534287del, NT_167249.1:g.3533582_3533585del, NT_167248.2:g.3441278_3441281del, NT_167248.1:g.3446874_3446877del, NT_167247.2:g.3560118_3560121del, NT_167247.1:g.3565703_3565706del, NT_167246.2:g.3523084_3523087del, NT_167246.1:g.3528704_3528707del, NP_004548.3:p.Asn515fs

Select item 14904264495.

rs1490426449 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:32220983 (GRCh38)
6:32188760 (GRCh37)
Canonical SPDI:: NC_000006.12:32220982:G:T
Gene:: NOTCH4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.32220983G>T, NC_000006.11:g.32188760G>T, NG_028190.1:g.8085C>A, NM_004557.4:c.794C>A, NM_004557.3:c.794C>A, NR_134949.2:n.933C>A, NR_134949.1:n.933C>A, NR_134950.2:n.933C>A, NR_134950.1:n.933C>A, NT_113891.3:g.3659327G>T, NT_113891.2:g.3659433G>T, NT_167249.2:g.3537191G>T, NT_167249.1:g.3536489G>T, NT_167248.2:g.3444185G>T, NT_167248.1:g.3449781G>T, NT_167247.2:g.3563025G>T, NT_167247.1:g.3568610G>T, NT_167246.2:g.3525991G>T, NT_167246.1:g.3531611G>T, NP_004548.3:p.Pro265His

Select item 14904114346.

rs1490411434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 6:32220150 (GRCh38)
6:32187927 (GRCh37)
Canonical SPDI:: NC_000006.12:32220149:C:A,NC_000006.12:32220149:C:G,NC_000006.12:32220149:C:T
Gene:: NOTCH4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.32220150C>A, NC_000006.12:g.32220150C>G, NC_000006.12:g.32220150C>T, NC_000006.11:g.32187927C>A, NC_000006.11:g.32187927C>G, NC_000006.11:g.32187927C>T, NG_028190.1:g.8918G>T, NG_028190.1:g.8918G>C, NG_028190.1:g.8918G>A, NM_004557.4:c.1294G>T, NM_004557.4:c.1294G>C, NM_004557.4:c.1294G>A, NM_004557.3:c.1294G>T, NM_004557.3:c.1294G>C, NM_004557.3:c.1294G>A, NR_134949.2:n.1433G>T, NR_134949.2:n.1433G>C, NR_134949.2:n.1433G>A, NR_134949.1:n.1433G>T, NR_134949.1:n.1433G>C, NR_134949.1:n.1433G>A, NR_134950.2:n.1433G>T, NR_134950.2:n.1433G>C, NR_134950.2:n.1433G>A, NR_134950.1:n.1433G>T, NR_134950.1:n.1433G>C, NR_134950.1:n.1433G>A, NT_113891.3:g.3658494C>A, NT_113891.3:g.3658494C>G, NT_113891.3:g.3658494C>T, NT_113891.2:g.3658600C>A, NT_113891.2:g.3658600C>G, NT_113891.2:g.3658600C>T, NT_167249.2:g.3536358C>A, NT_167249.2:g.3536358C>G, NT_167249.2:g.3536358C>T, NT_167249.1:g.3535656C>A, NT_167249.1:g.3535656C>G, NT_167249.1:g.3535656C>T, NT_167248.2:g.3443352C>A, NT_167248.2:g.3443352C>G, NT_167248.2:g.3443352C>T, NT_167248.1:g.3448948C>A, NT_167248.1:g.3448948C>G, NT_167248.1:g.3448948C>T, NT_167247.2:g.3562192C>A, NT_167247.2:g.3562192C>G, NT_167247.2:g.3562192C>T, NT_167247.1:g.3567777C>A, NT_167247.1:g.3567777C>G, NT_167247.1:g.3567777C>T, NT_167246.2:g.3525158C>A, NT_167246.2:g.3525158C>G, NT_167246.2:g.3525158C>T, NT_167246.1:g.3530778C>A, NT_167246.1:g.3530778C>G, NT_167246.1:g.3530778C>T, NP_004548.3:p.Asp432Tyr, NP_004548.3:p.Asp432His, NP_004548.3:p.Asp432Asn

Select item 14895065897.

rs1489506589 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:32201229 (GRCh38)
6:32169006 (GRCh37)
Canonical SPDI:: NC_000006.12:32201228:G:A,NC_000006.12:32201228:G:C
Gene:: NOTCH4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.32201229G>A, NC_000006.12:g.32201229G>C, NC_000006.11:g.32169006G>A, NC_000006.11:g.32169006G>C, NG_028190.1:g.27839C>T, NG_028190.1:g.27839C>G, NM_004557.4:c.4027C>T, NM_004557.4:c.4027C>G, NM_004557.3:c.4027C>T, NM_004557.3:c.4027C>G, NR_134949.2:n.3744C>T, NR_134949.2:n.3744C>G, NR_134949.1:n.3744C>T, NR_134949.1:n.3744C>G, NR_134950.2:n.3642C>T, NR_134950.2:n.3642C>G, NR_134950.1:n.3642C>T, NR_134950.1:n.3642C>G, NT_113891.3:g.3639589G>A, NT_113891.3:g.3639589G>C, NT_113891.2:g.3639695G>A, NT_113891.2:g.3639695G>C, NT_167249.2:g.3517446G>A, NT_167249.2:g.3517446G>C, NT_167249.1:g.3516744G>A, NT_167249.1:g.3516744G>C, NT_167248.2:g.3424437G>A, NT_167248.2:g.3424437G>C, NT_167248.1:g.3430033G>A, NT_167248.1:g.3430033G>C, NT_167247.2:g.3543255G>A, NT_167247.2:g.3543255G>C, NT_167247.1:g.3548840G>A, NT_167247.1:g.3548840G>C, NT_167246.2:g.3506212G>A, NT_167246.2:g.3506212G>C, NT_167246.1:g.3511832G>A, NT_167246.1:g.3511832G>C, NT_167244.2:g.3533840G>A, NT_167244.2:g.3533840G>C, NT_167244.1:g.3483756G>A, NT_167244.1:g.3483756G>C, NP_004548.3:p.Pro1343Ser, NP_004548.3:p.Pro1343Ala

Select item 14889562288.

rs1488956228 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32196150 (GRCh38)
6:32163927 (GRCh37)
Canonical SPDI:: NC_000006.12:32196149:C:T
Gene:: NOTCH4 (Varview), GPSM3 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.32196150C>T, NC_000006.11:g.32163927C>T, NG_028190.1:g.32918G>A, NM_004557.4:c.5299G>A, NM_004557.3:c.5299G>A, NR_134949.2:n.5007G>A, NR_134949.1:n.5007G>A, NR_134950.2:n.4905G>A, NR_134950.1:n.4905G>A, NT_113891.3:g.3634499C>T, NT_113891.2:g.3634605C>T, NT_167249.2:g.3512355C>T, NT_167249.1:g.3511653C>T, NT_167248.2:g.3419349C>T, NT_167248.1:g.3424945C>T, NT_167247.2:g.3538166C>T, NT_167247.1:g.3543751C>T, NT_167246.2:g.3501128C>T, NT_167246.1:g.3506748C>T, NT_167244.2:g.3528749C>T, NT_167244.1:g.3478665C>T, NP_004548.3:p.Glu1767Lys

Select item 14883223269.

rs1488322326 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:32202522 (GRCh38)
6:32170299 (GRCh37)
Canonical SPDI:: NC_000006.12:32202521:C:G,NC_000006.12:32202521:C:T
Gene:: NOTCH4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000006.12:g.32202522C>G, NC_000006.12:g.32202522C>T, NC_000006.11:g.32170299C>G, NC_000006.11:g.32170299C>T, NG_028190.1:g.26546G>C, NG_028190.1:g.26546G>A, NM_004557.4:c.3309G>C, NM_004557.4:c.3309G>A, NM_004557.3:c.3309G>C, NM_004557.3:c.3309G>A, NT_113891.3:g.3640882C>G, NT_113891.3:g.3640882C>T, NT_113891.2:g.3640988C>G, NT_113891.2:g.3640988C>T, NT_167249.2:g.3518739C>G, NT_167249.2:g.3518739C>T, NT_167249.1:g.3518037C>G, NT_167249.1:g.3518037C>T, NT_167248.2:g.3425730C>G, NT_167248.2:g.3425730C>T, NT_167248.1:g.3431326C>G, NT_167248.1:g.3431326C>T, NT_167247.2:g.3544548C>G, NT_167247.2:g.3544548C>T, NT_167247.1:g.3550133C>G, NT_167247.1:g.3550133C>T, NT_167246.2:g.3507505C>G, NT_167246.2:g.3507505C>T, NT_167246.1:g.3513125C>G, NT_167246.1:g.3513125C>T, NT_167244.2:g.3535133C>G, NT_167244.2:g.3535133C>T, NT_167244.1:g.3485049C>G, NT_167244.1:g.3485049C>T

Select item 148703430710.

rs1487034307 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 6:32198932 (GRCh38)
6:32166709 (GRCh37)
Canonical SPDI:: NC_000006.12:32198931:CC:C
Gene:: NOTCH4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.32198933del, NC_000006.11:g.32166710del, NG_028190.1:g.30136del, NM_004557.4:c.4529del, NM_004557.3:c.4529del, NR_134949.2:n.4246del, NR_134949.1:n.4246del, NR_134950.2:n.4144del, NR_134950.1:n.4144del, NT_113891.3:g.3637283del, NT_113891.2:g.3637389del, NT_167249.2:g.3515139del, NT_167249.1:g.3514437del, NT_167248.2:g.3422131del, NT_167248.1:g.3427727del, NT_167247.2:g.3540949del, NT_167247.1:g.3546534del, NT_167246.2:g.3503911del, NT_167246.1:g.3509531del, NT_167244.2:g.3531533del, NT_167244.1:g.3481449del, NP_004548.3:p.Gly1510fs

Select item 148616708811.

rs1486167088 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 6:32220530 (GRCh38)
6:32188307 (GRCh37)
Canonical SPDI:: NC_000006.12:32220529:C:A,NC_000006.12:32220529:C:G,NC_000006.12:32220529:C:T
Gene:: NOTCH4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.32220530C>A, NC_000006.12:g.32220530C>G, NC_000006.12:g.32220530C>T, NC_000006.11:g.32188307C>A, NC_000006.11:g.32188307C>G, NC_000006.11:g.32188307C>T, NG_028190.1:g.8538G>T, NG_028190.1:g.8538G>C, NG_028190.1:g.8538G>A, NM_004557.4:c.1034G>T, NM_004557.4:c.1034G>C, NM_004557.4:c.1034G>A, NM_004557.3:c.1034G>T, NM_004557.3:c.1034G>C, NM_004557.3:c.1034G>A, NR_134949.2:n.1173G>T, NR_134949.2:n.1173G>C, NR_134949.2:n.1173G>A, NR_134949.1:n.1173G>T, NR_134949.1:n.1173G>C, NR_134949.1:n.1173G>A, NR_134950.2:n.1173G>T, NR_134950.2:n.1173G>C, NR_134950.2:n.1173G>A, NR_134950.1:n.1173G>T, NR_134950.1:n.1173G>C, NR_134950.1:n.1173G>A, NT_113891.3:g.3658874C>A, NT_113891.3:g.3658874C>G, NT_113891.3:g.3658874C>T, NT_113891.2:g.3658980C>A, NT_113891.2:g.3658980C>G, NT_113891.2:g.3658980C>T, NT_167249.2:g.3536738C>A, NT_167249.2:g.3536738C>G, NT_167249.2:g.3536738C>T, NT_167249.1:g.3536036C>A, NT_167249.1:g.3536036C>G, NT_167249.1:g.3536036C>T, NT_167248.2:g.3443732C>A, NT_167248.2:g.3443732C>G, NT_167248.2:g.3443732C>T, NT_167248.1:g.3449328C>A, NT_167248.1:g.3449328C>G, NT_167248.1:g.3449328C>T, NT_167247.2:g.3562572C>A, NT_167247.2:g.3562572C>G, NT_167247.2:g.3562572C>T, NT_167247.1:g.3568157C>A, NT_167247.1:g.3568157C>G, NT_167247.1:g.3568157C>T, NT_167246.2:g.3525538C>A, NT_167246.2:g.3525538C>G, NT_167246.2:g.3525538C>T, NT_167246.1:g.3531158C>A, NT_167246.1:g.3531158C>G, NT_167246.1:g.3531158C>T, NP_004548.3:p.Ser345Ile, NP_004548.3:p.Ser345Thr, NP_004548.3:p.Ser345Asn

Select item 148607740912.

rs1486077409 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32213750 (GRCh38)
6:32181527 (GRCh37)
Canonical SPDI:: NC_000006.12:32213749:C:T
Gene:: NOTCH4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000342/1 (KOREAN)
HGVS:: NC_000006.12:g.32213750C>T, NC_000006.11:g.32181527C>T, NG_028190.1:g.15318G>A, NM_004557.4:c.2258G>A, NM_004557.3:c.2258G>A, NR_134949.2:n.2499G>A, NR_134949.1:n.2499G>A, NR_134950.2:n.2397G>A, NR_134950.1:n.2397G>A, NT_113891.3:g.3652095C>T, NT_113891.2:g.3652201C>T, NT_167249.2:g.3529956C>T, NT_167249.1:g.3529254C>T, NT_167248.2:g.3436952C>T, NT_167248.1:g.3442548C>T, NT_167247.2:g.3555771C>T, NT_167247.1:g.3561356C>T, NT_167246.2:g.3518734C>T, NT_167246.1:g.3524354C>T, NP_004548.3:p.Cys753Tyr

Select item 148550413413.

rs1485504134 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:32196405 (GRCh38)
6:32164182 (GRCh37)
Canonical SPDI:: NC_000006.12:32196404:G:A
Gene:: NOTCH4 (Varview), GPSM3 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.32196405G>A, NC_000006.11:g.32164182G>A, NG_028190.1:g.32663C>T, NM_004557.4:c.5217C>T, NM_004557.3:c.5217C>T, NR_134949.2:n.4925C>T, NR_134949.1:n.4925C>T, NR_134950.2:n.4823C>T, NR_134950.1:n.4823C>T, NT_113891.3:g.3634754G>A, NT_113891.2:g.3634860G>A, NT_167249.2:g.3512610G>A, NT_167249.1:g.3511908G>A, NT_167248.2:g.3419604G>A, NT_167248.1:g.3425200G>A, NT_167247.2:g.3538421G>A, NT_167247.1:g.3544006G>A, NT_167246.2:g.3501383G>A, NT_167246.1:g.3507003G>A, NT_167244.2:g.3529004G>A, NT_167244.1:g.3478920G>A

Select item 148508035814.

rs1485080358 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:32201143 (GRCh38)
6:32168920 (GRCh37)
Canonical SPDI:: NC_000006.12:32201142:G:T
Gene:: NOTCH4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.32201143G>T, NC_000006.11:g.32168920G>T, NG_028190.1:g.27925C>A, NM_004557.4:c.4113C>A, NM_004557.3:c.4113C>A, NR_134949.2:n.3830C>A, NR_134949.1:n.3830C>A, NR_134950.2:n.3728C>A, NR_134950.1:n.3728C>A, NT_113891.3:g.3639503G>T, NT_113891.2:g.3639609G>T, NT_167249.2:g.3517360G>T, NT_167249.1:g.3516658G>T, NT_167248.2:g.3424351G>T, NT_167248.1:g.3429947G>T, NT_167247.2:g.3543169G>T, NT_167247.1:g.3548754G>T, NT_167246.2:g.3506126G>T, NT_167246.1:g.3511746G>T, NT_167244.2:g.3533754G>T, NT_167244.1:g.3483670G>T

Select item 148458402915.

rs1484584029 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:32220828 (GRCh38)
6:32188605 (GRCh37)
Canonical SPDI:: NC_000006.12:32220827:G:C,NC_000006.12:32220827:G:T
Gene:: NOTCH4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.32220828G>C, NC_000006.12:g.32220828G>T, NC_000006.11:g.32188605G>C, NC_000006.11:g.32188605G>T, NG_028190.1:g.8240C>G, NG_028190.1:g.8240C>A, NM_004557.4:c.850C>G, NM_004557.4:c.850C>A, NM_004557.3:c.850C>G, NM_004557.3:c.850C>A, NR_134949.2:n.989C>G, NR_134949.2:n.989C>A, NR_134949.1:n.989C>G, NR_134949.1:n.989C>A, NR_134950.2:n.989C>G, NR_134950.2:n.989C>A, NR_134950.1:n.989C>G, NR_134950.1:n.989C>A, NT_113891.3:g.3659172G>C, NT_113891.3:g.3659172G>T, NT_113891.2:g.3659278G>C, NT_113891.2:g.3659278G>T, NT_167249.2:g.3537036G>C, NT_167249.2:g.3537036G>T, NT_167249.1:g.3536334G>C, NT_167249.1:g.3536334G>T, NT_167248.2:g.3444030G>C, NT_167248.2:g.3444030G>T, NT_167248.1:g.3449626G>C, NT_167248.1:g.3449626G>T, NT_167247.2:g.3562870G>C, NT_167247.2:g.3562870G>T, NT_167247.1:g.3568455G>C, NT_167247.1:g.3568455G>T, NT_167246.2:g.3525836G>C, NT_167246.2:g.3525836G>T, NT_167246.1:g.3531456G>C, NT_167246.1:g.3531456G>T, NP_004548.3:p.Gln284Glu, NP_004548.3:p.Gln284Lys

Select item 148450316016.

rs1484503160 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32202107 (GRCh38)
6:32169884 (GRCh37)
Canonical SPDI:: NC_000006.12:32202106:C:T
Gene:: NOTCH4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.32202107C>T, NC_000006.11:g.32169884C>T, NG_028190.1:g.26961G>A, NM_004557.4:c.3724G>A, NM_004557.3:c.3724G>A, NT_113891.3:g.3640467C>T, NT_113891.2:g.3640573C>T, NT_167249.2:g.3518324C>T, NT_167249.1:g.3517622C>T, NT_167248.2:g.3425315C>T, NT_167248.1:g.3430911C>T, NT_167247.2:g.3544133C>T, NT_167247.1:g.3549718C>T, NT_167246.2:g.3507090C>T, NT_167246.1:g.3512710C>T, NT_167244.2:g.3534718C>T, NT_167244.1:g.3484634C>T, NP_004548.3:p.Gly1242Ser

Select item 148429985617.

rs1484299856 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:32217219 (GRCh38)
6:32184996 (GRCh37)
Canonical SPDI:: NC_000006.12:32217218:A:G
Gene:: NOTCH4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.32217219A>G, NC_000006.11:g.32184996A>G, NG_028190.1:g.11849T>C, NM_004557.4:c.1672T>C, NM_004557.3:c.1672T>C, NR_134949.2:n.1913T>C, NR_134949.1:n.1913T>C, NR_134950.2:n.1811T>C, NR_134950.1:n.1811T>C, NT_113891.3:g.3655565A>G, NT_113891.2:g.3655671A>G, NT_167249.2:g.3533427A>G, NT_167249.1:g.3532725A>G, NT_167248.2:g.3440421A>G, NT_167248.1:g.3446017A>G, NT_167247.2:g.3559261A>G, NT_167247.1:g.3564846A>G, NT_167246.2:g.3522227A>G, NT_167246.1:g.3527847A>G, NP_004548.3:p.Ser558Pro

Select item 148400865518.

rs1484008655 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:32218096 (GRCh38)
6:32185873 (GRCh37)
Canonical SPDI:: NC_000006.12:32218095:T:C
Gene:: NOTCH4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.32218096T>C, NC_000006.11:g.32185873T>C, NG_028190.1:g.10972A>G, NM_004557.4:c.1523A>G, NM_004557.3:c.1523A>G, NR_134949.2:n.1764A>G, NR_134949.1:n.1764A>G, NR_134950.2:n.1662A>G, NR_134950.1:n.1662A>G, NT_113891.3:g.3656442T>C, NT_113891.2:g.3656548T>C, NT_167249.2:g.3534304T>C, NT_167249.1:g.3533602T>C, NT_167248.2:g.3441298T>C, NT_167248.1:g.3446894T>C, NT_167247.2:g.3560138T>C, NT_167247.1:g.3565723T>C, NT_167246.2:g.3523104T>C, NT_167246.1:g.3528724T>C, NP_004548.3:p.Gln508Arg

Select item 148312133019.

rs1483121330 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32202400 (GRCh38)
6:32170177 (GRCh37)
Canonical SPDI:: NC_000006.12:32202399:C:T
Gene:: NOTCH4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.32202400C>T, NC_000006.11:g.32170177C>T, NG_028190.1:g.26668G>A, NM_004557.4:c.3431G>A, NM_004557.3:c.3431G>A, NT_113891.3:g.3640760C>T, NT_113891.2:g.3640866C>T, NT_167249.2:g.3518617C>T, NT_167249.1:g.3517915C>T, NT_167248.2:g.3425608C>T, NT_167248.1:g.3431204C>T, NT_167247.2:g.3544426C>T, NT_167247.1:g.3550011C>T, NT_167246.2:g.3507383C>T, NT_167246.1:g.3513003C>T, NT_167244.2:g.3535011C>T, NT_167244.1:g.3484927C>T, NP_004548.3:p.Gly1144Asp

Select item 148253690220.

rs1482536902 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:32220242 (GRCh38)
6:32188019 (GRCh37)
Canonical SPDI:: NC_000006.12:32220241:C:G,NC_000006.12:32220241:C:T
Gene:: NOTCH4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.32220242C>G, NC_000006.12:g.32220242C>T, NC_000006.11:g.32188019C>G, NC_000006.11:g.32188019C>T, NG_028190.1:g.8826G>C, NG_028190.1:g.8826G>A, NM_004557.4:c.1202G>C, NM_004557.4:c.1202G>A, NM_004557.3:c.1202G>C, NM_004557.3:c.1202G>A, NR_134949.2:n.1341G>C, NR_134949.2:n.1341G>A, NR_134949.1:n.1341G>C, NR_134949.1:n.1341G>A, NR_134950.2:n.1341G>C, NR_134950.2:n.1341G>A, NR_134950.1:n.1341G>C, NR_134950.1:n.1341G>A, NT_113891.3:g.3658586C>G, NT_113891.3:g.3658586C>T, NT_113891.2:g.3658692C>G, NT_113891.2:g.3658692C>T, NT_167249.2:g.3536450C>G, NT_167249.2:g.3536450C>T, NT_167249.1:g.3535748C>G, NT_167249.1:g.3535748C>T, NT_167248.2:g.3443444C>G, NT_167248.2:g.3443444C>T, NT_167248.1:g.3449040C>G, NT_167248.1:g.3449040C>T, NT_167247.2:g.3562284C>G, NT_167247.2:g.3562284C>T, NT_167247.1:g.3567869C>G, NT_167247.1:g.3567869C>T, NT_167246.2:g.3525250C>G, NT_167246.2:g.3525250C>T, NT_167246.1:g.3530870C>G, NT_167246.1:g.3530870C>T, NP_004548.3:p.Cys401Ser, NP_004548.3:p.Cys401Tyr

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dbSNP

Result Filters

Clinical Significance

Validation Status

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Annotation

Global MAF

Custom range

Additional filters

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Links from Protein

Items: 1 to 20 of 1000

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