Canonical Allele Identifier: CA352151200

Gene: SCN10A

Linked Data

• MyVariant Identifiers: chr3:g.38753834A>G (hg19) ; chr3:g.38712343A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38712343A>G , CM000665.2:g.38712343A>G	GRCh38
NC_000003.11:g.38753834A>G , CM000665.1:g.38753834A>G	GRCh37
NC_000003.10:g.38728838A>G	NCBI36
NG_031891.2:g.86668T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000449082.3:c.3907T>C MANE Select	ENSP00000390600.2:p.Phe1303Leu
ENST00000643924.1:c.3904T>C	ENSP00000495595.1:p.Phe1302Leu
ENST00000655275.1:c.3931T>C	ENSP00000499510.1:p.Phe1311Leu
ENST00000449082.2:c.3907T>C	ENSP00000390600.2:p.Phe1303Leu
NM_001293306.2:c.3904T>C	NP_001280235.2:p.Phe1302Leu
NM_001293307.2:c.3613T>C	NP_001280236.2:p.Phe1205Leu
NM_006514.3:c.3907T>C	NP_006505.3:p.Phe1303Leu
XM_005265371.2:c.3916T>C	XP_005265428.1:p.Phe1306Leu
XM_011533993.1:c.3913T>C	XP_011532295.1:p.Phe1305Leu
XM_011533994.1:c.3622T>C	XP_011532296.1:p.Phe1208Leu
XM_005265371.3:c.3916T>C	XP_005265428.1:p.Phe1306Leu
XM_011533993.2:c.3913T>C	XP_011532295.1:p.Phe1305Leu
XM_011533994.2:c.3622T>C	XP_011532296.1:p.Phe1208Leu
NM_006514.4:c.3907T>C MANE Select	NP_006505.4:p.Phe1303Leu