Canonical Allele Identifier: CA352151220

Gene: SCN10A

Linked Data

• MyVariant Identifiers: chr3:g.38753843C>T (hg19) ; chr3:g.38712352C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38712352C>T , CM000665.2:g.38712352C>T	GRCh38
NC_000003.11:g.38753843C>T , CM000665.1:g.38753843C>T	GRCh37
NC_000003.10:g.38728847C>T	NCBI36
NG_031891.2:g.86659G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000449082.3:c.3898G>A MANE Select	ENSP00000390600.2:p.Val1300Met
ENST00000643924.1:c.3895G>A	ENSP00000495595.1:p.Val1299Met
ENST00000655275.1:c.3922G>A	ENSP00000499510.1:p.Val1308Met
ENST00000449082.2:c.3898G>A	ENSP00000390600.2:p.Val1300Met
NM_001293306.2:c.3895G>A	NP_001280235.2:p.Val1299Met
NM_001293307.2:c.3604G>A	NP_001280236.2:p.Val1202Met
NM_006514.3:c.3898G>A	NP_006505.3:p.Val1300Met
XM_005265371.2:c.3907G>A	XP_005265428.1:p.Val1303Met
XM_011533993.1:c.3904G>A	XP_011532295.1:p.Val1302Met
XM_011533994.1:c.3613G>A	XP_011532296.1:p.Val1205Met
XM_005265371.3:c.3907G>A	XP_005265428.1:p.Val1303Met
XM_011533993.2:c.3904G>A	XP_011532295.1:p.Val1302Met
XM_011533994.2:c.3613G>A	XP_011532296.1:p.Val1205Met
NM_006514.4:c.3898G>A MANE Select	NP_006505.4:p.Val1300Met