Canonical Allele Identifier: CA352156592

Gene: SCN10A

Linked Data

• dbSNP Id: rs6795970
• gnomAD v4: 3-38725184-A-T
• MyVariant Identifiers: chr3:g.38766675A>T (hg19) ; chr3:g.38725184A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725184A>T , CM000665.2:g.38725184A>T	GRCh38
NC_000003.11:g.38766675A>T , CM000665.1:g.38766675A>T	GRCh37
NC_000003.10:g.38741679A>T	NCBI36
NG_031891.2:g.73827T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000449082.3:c.3218T>A MANE Select	ENSP00000390600.2:p.Val1073Asp
ENST00000643924.1:c.3215T>A	ENSP00000495595.1:p.Val1072Asp
ENST00000655275.1:c.3242T>A	ENSP00000499510.1:p.Val1081Asp
ENST00000449082.2:c.3218T>A	ENSP00000390600.2:p.Val1073Asp
NM_001293306.2:c.3215T>A	NP_001280235.2:p.Val1072Asp
NM_001293307.2:c.2924T>A	NP_001280236.2:p.Val975Asp
NM_006514.3:c.3218T>A	NP_006505.3:p.Val1073Asp
XM_005265371.2:c.3227T>A	XP_005265428.1:p.Val1076Asp
XM_011533993.1:c.3224T>A	XP_011532295.1:p.Val1075Asp
XM_011533994.1:c.2933T>A	XP_011532296.1:p.Val978Asp
XM_005265371.3:c.3227T>A	XP_005265428.1:p.Val1076Asp
XM_011533993.2:c.3224T>A	XP_011532295.1:p.Val1075Asp
XM_011533994.2:c.2933T>A	XP_011532296.1:p.Val978Asp
NM_006514.4:c.3218T>A MANE Select	NP_006505.4:p.Val1073Asp