Canonical Allele Identifier: CA2319775

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 2563715
• ClinVar RCV Id: RCV003306044
• dbSNP Id: rs529861077
• ExAC: 3:38739769 C / T
• gnomAD v2: 3-38739769-C-T
• gnomAD v3: 3-38698278-C-T
• gnomAD v4: 3-38698278-C-T
• COSMIC: COSM263523
• MyVariant Identifiers: chr3:g.38739769C>T (hg19) ; chr3:g.38698278C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38698278C>T , CM000665.2:g.38698278C>T	GRCh38
NC_000003.11:g.38739769C>T , CM000665.1:g.38739769C>T	GRCh37
NC_000003.10:g.38714773C>T	NCBI36
NG_031891.2:g.100733G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.4942G>A MANE Select	ENSP00000390600.2:p.Ala1648Thr
ENST00000643924.1:c.4939G>A	ENSP00000495595.1:p.Ala1647Thr
ENST00000655275.1:c.4966G>A	ENSP00000499510.1:p.Ala1656Thr
ENST00000449082.2:c.4942G>A	ENSP00000390600.2:p.Ala1648Thr
NM_001293306.2:c.4939G>A	NP_001280235.2:p.Ala1647Thr
NM_001293307.2:c.4648G>A	NP_001280236.2:p.Ala1550Thr
NM_006514.3:c.4942G>A	NP_006505.3:p.Ala1648Thr
XM_005265371.2:c.4951G>A	XP_005265428.1:p.Ala1651Thr
XM_011533993.1:c.4948G>A	XP_011532295.1:p.Ala1650Thr
XM_011533994.1:c.4657G>A	XP_011532296.1:p.Ala1553Thr
XM_005265371.3:c.4951G>A	XP_005265428.1:p.Ala1651Thr
XM_011533993.2:c.4948G>A	XP_011532295.1:p.Ala1650Thr
XM_011533994.2:c.4657G>A	XP_011532296.1:p.Ala1553Thr
NM_006514.4:c.4942G>A MANE Select	NP_006505.4:p.Ala1648Thr