Canonical Allele Identifier: CA352156818

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38725295-A-T
• COSMIC: COSM375063
• MyVariant Identifiers: chr3:g.38766786A>T (hg19) ; chr3:g.38725295A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725295A>T , CM000665.2:g.38725295A>T	GRCh38
NC_000003.11:g.38766786A>T , CM000665.1:g.38766786A>T	GRCh37
NC_000003.10:g.38741790A>T	NCBI36
NG_031891.2:g.73716T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3107T>A MANE Select	ENSP00000390600.2:p.Val1036Asp
ENST00000643924.1:c.3104T>A	ENSP00000495595.1:p.Val1035Asp
ENST00000655275.1:c.3131T>A	ENSP00000499510.1:p.Val1044Asp
ENST00000449082.2:c.3107T>A	ENSP00000390600.2:p.Val1036Asp
NM_001293306.2:c.3104T>A	NP_001280235.2:p.Val1035Asp
NM_001293307.2:c.2813T>A	NP_001280236.2:p.Val938Asp
NM_006514.3:c.3107T>A	NP_006505.3:p.Val1036Asp
XM_005265371.2:c.3116T>A	XP_005265428.1:p.Val1039Asp
XM_011533993.1:c.3113T>A	XP_011532295.1:p.Val1038Asp
XM_011533994.1:c.2822T>A	XP_011532296.1:p.Val941Asp
XM_005265371.3:c.3116T>A	XP_005265428.1:p.Val1039Asp
XM_011533993.2:c.3113T>A	XP_011532295.1:p.Val1038Asp
XM_011533994.2:c.2822T>A	XP_011532296.1:p.Val941Asp
NM_006514.4:c.3107T>A MANE Select	NP_006505.4:p.Val1036Asp