Canonical Allele Identifier: CA352156621

Gene: SCN10A

Linked Data

• MyVariant Identifiers: chr3:g.38766689C>A (hg19) ; chr3:g.38725198C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725198C>A , CM000665.2:g.38725198C>A	GRCh38
NC_000003.11:g.38766689C>A , CM000665.1:g.38766689C>A	GRCh37
NC_000003.10:g.38741693C>A	NCBI36
NG_031891.2:g.73813G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3204G>T MANE Select	ENSP00000390600.2:p.Glu1068Asp
ENST00000643924.1:c.3201G>T	ENSP00000495595.1:p.Glu1067Asp
ENST00000655275.1:c.3228G>T	ENSP00000499510.1:p.Glu1076Asp
ENST00000449082.2:c.3204G>T	ENSP00000390600.2:p.Glu1068Asp
NM_001293306.2:c.3201G>T	NP_001280235.2:p.Glu1067Asp
NM_001293307.2:c.2910G>T	NP_001280236.2:p.Glu970Asp
NM_006514.3:c.3204G>T	NP_006505.3:p.Glu1068Asp
XM_005265371.2:c.3213G>T	XP_005265428.1:p.Glu1071Asp
XM_011533993.1:c.3210G>T	XP_011532295.1:p.Glu1070Asp
XM_011533994.1:c.2919G>T	XP_011532296.1:p.Glu973Asp
XM_005265371.3:c.3213G>T	XP_005265428.1:p.Glu1071Asp
XM_011533993.2:c.3210G>T	XP_011532295.1:p.Glu1070Asp
XM_011533994.2:c.2919G>T	XP_011532296.1:p.Glu973Asp
NM_006514.4:c.3204G>T MANE Select	NP_006505.4:p.Glu1068Asp