Canonical Allele Identifier: CA352151203

Gene: SCN10A

Linked Data

• MyVariant Identifiers: chr3:g.38753836A>T (hg19) ; chr3:g.38712345A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38712345A>T , CM000665.2:g.38712345A>T	GRCh38
NC_000003.11:g.38753836A>T , CM000665.1:g.38753836A>T	GRCh37
NC_000003.10:g.38728840A>T	NCBI36
NG_031891.2:g.86666T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000449082.3:c.3905T>A MANE Select	ENSP00000390600.2:p.Leu1302His
ENST00000643924.1:c.3902T>A	ENSP00000495595.1:p.Leu1301His
ENST00000655275.1:c.3929T>A	ENSP00000499510.1:p.Leu1310His
ENST00000449082.2:c.3905T>A	ENSP00000390600.2:p.Leu1302His
NM_001293306.2:c.3902T>A	NP_001280235.2:p.Leu1301His
NM_001293307.2:c.3611T>A	NP_001280236.2:p.Leu1204His
NM_006514.3:c.3905T>A	NP_006505.3:p.Leu1302His
XM_005265371.2:c.3914T>A	XP_005265428.1:p.Leu1305His
XM_011533993.1:c.3911T>A	XP_011532295.1:p.Leu1304His
XM_011533994.1:c.3620T>A	XP_011532296.1:p.Leu1207His
XM_005265371.3:c.3914T>A	XP_005265428.1:p.Leu1305His
XM_011533993.2:c.3911T>A	XP_011532295.1:p.Leu1304His
XM_011533994.2:c.3620T>A	XP_011532296.1:p.Leu1207His
NM_006514.4:c.3905T>A MANE Select	NP_006505.4:p.Leu1302His