Canonical Allele Identifier: CA352156819

Gene: SCN10A

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3106G>T MANE Select	ENSP00000390600.2:p.Val1036Phe
ENST00000643924.1:c.3103G>T	ENSP00000495595.1:p.Val1035Phe
ENST00000655275.1:c.3130G>T	ENSP00000499510.1:p.Val1044Phe
ENST00000449082.2:c.3106G>T	ENSP00000390600.2:p.Val1036Phe
NM_001293306.2:c.3103G>T	NP_001280235.2:p.Val1035Phe
NM_001293307.2:c.2812G>T	NP_001280236.2:p.Val938Phe
NM_006514.3:c.3106G>T	NP_006505.3:p.Val1036Phe
XM_005265371.2:c.3115G>T	XP_005265428.1:p.Val1039Phe
XM_011533993.1:c.3112G>T	XP_011532295.1:p.Val1038Phe
XM_011533994.1:c.2821G>T	XP_011532296.1:p.Val941Phe
XM_005265371.3:c.3115G>T	XP_005265428.1:p.Val1039Phe
XM_011533993.2:c.3112G>T	XP_011532295.1:p.Val1038Phe
XM_011533994.2:c.2821G>T	XP_011532296.1:p.Val941Phe
NM_006514.4:c.3106G>T MANE Select	NP_006505.4:p.Val1036Phe