Canonical Allele Identifier: CA352156821

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38725296-C-T
• MyVariant Identifiers: chr3:g.38766787C>T (hg19) ; chr3:g.38725296C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725296C>T , CM000665.2:g.38725296C>T	GRCh38
NC_000003.11:g.38766787C>T , CM000665.1:g.38766787C>T	GRCh37
NC_000003.10:g.38741791C>T	NCBI36
NG_031891.2:g.73715G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3106G>A MANE Select	ENSP00000390600.2:p.Val1036Ile
ENST00000643924.1:c.3103G>A	ENSP00000495595.1:p.Val1035Ile
ENST00000655275.1:c.3130G>A	ENSP00000499510.1:p.Val1044Ile
ENST00000449082.2:c.3106G>A	ENSP00000390600.2:p.Val1036Ile
NM_001293306.2:c.3103G>A	NP_001280235.2:p.Val1035Ile
NM_001293307.2:c.2812G>A	NP_001280236.2:p.Val938Ile
NM_006514.3:c.3106G>A	NP_006505.3:p.Val1036Ile
XM_005265371.2:c.3115G>A	XP_005265428.1:p.Val1039Ile
XM_011533993.1:c.3112G>A	XP_011532295.1:p.Val1038Ile
XM_011533994.1:c.2821G>A	XP_011532296.1:p.Val941Ile
XM_005265371.3:c.3115G>A	XP_005265428.1:p.Val1039Ile
XM_011533993.2:c.3112G>A	XP_011532295.1:p.Val1038Ile
XM_011533994.2:c.2821G>A	XP_011532296.1:p.Val941Ile
NM_006514.4:c.3106G>A MANE Select	NP_006505.4:p.Val1036Ile