Canonical Allele Identifier: CA352156809

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38725291-C-A
• MyVariant Identifiers: chr3:g.38766782C>A (hg19) ; chr3:g.38725291C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725291C>A , CM000665.2:g.38725291C>A	GRCh38
NC_000003.11:g.38766782C>A , CM000665.1:g.38766782C>A	GRCh37
NC_000003.10:g.38741786C>A	NCBI36
NG_031891.2:g.73720G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3111G>T MANE Select	ENSP00000390600.2:p.Glu1037Asp
ENST00000643924.1:c.3108G>T	ENSP00000495595.1:p.Glu1036Asp
ENST00000655275.1:c.3135G>T	ENSP00000499510.1:p.Glu1045Asp
ENST00000449082.2:c.3111G>T	ENSP00000390600.2:p.Glu1037Asp
NM_001293306.2:c.3108G>T	NP_001280235.2:p.Glu1036Asp
NM_001293307.2:c.2817G>T	NP_001280236.2:p.Glu939Asp
NM_006514.3:c.3111G>T	NP_006505.3:p.Glu1037Asp
XM_005265371.2:c.3120G>T	XP_005265428.1:p.Glu1040Asp
XM_011533993.1:c.3117G>T	XP_011532295.1:p.Glu1039Asp
XM_011533994.1:c.2826G>T	XP_011532296.1:p.Glu942Asp
XM_005265371.3:c.3120G>T	XP_005265428.1:p.Glu1040Asp
XM_011533993.2:c.3117G>T	XP_011532295.1:p.Glu1039Asp
XM_011533994.2:c.2826G>T	XP_011532296.1:p.Glu942Asp
NM_006514.4:c.3111G>T MANE Select	NP_006505.4:p.Glu1037Asp