Canonical Allele Identifier: CA352156757

Gene: SCN10A

Linked Data

• MyVariant Identifiers: chr3:g.38766756C>T (hg19) ; chr3:g.38725265C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725265C>T , CM000665.2:g.38725265C>T	GRCh38
NC_000003.11:g.38766756C>T , CM000665.1:g.38766756C>T	GRCh37
NC_000003.10:g.38741760C>T	NCBI36
NG_031891.2:g.73746G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3137G>A MANE Select	ENSP00000390600.2:p.Arg1046Lys
ENST00000643924.1:c.3134G>A	ENSP00000495595.1:p.Arg1045Lys
ENST00000655275.1:c.3161G>A	ENSP00000499510.1:p.Arg1054Lys
ENST00000449082.2:c.3137G>A	ENSP00000390600.2:p.Arg1046Lys
NM_001293306.2:c.3134G>A	NP_001280235.2:p.Arg1045Lys
NM_001293307.2:c.2843G>A	NP_001280236.2:p.Arg948Lys
NM_006514.3:c.3137G>A	NP_006505.3:p.Arg1046Lys
XM_005265371.2:c.3146G>A	XP_005265428.1:p.Arg1049Lys
XM_011533993.1:c.3143G>A	XP_011532295.1:p.Arg1048Lys
XM_011533994.1:c.2852G>A	XP_011532296.1:p.Arg951Lys
XM_005265371.3:c.3146G>A	XP_005265428.1:p.Arg1049Lys
XM_011533993.2:c.3143G>A	XP_011532295.1:p.Arg1048Lys
XM_011533994.2:c.2852G>A	XP_011532296.1:p.Arg951Lys
NM_006514.4:c.3137G>A MANE Select	NP_006505.4:p.Arg1046Lys