Canonical Allele Identifier: CA352156669

Gene: SCN10A

Linked Data

• MyVariant Identifiers: chr3:g.38766711A>C (hg19) ; chr3:g.38725220A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725220A>C , CM000665.2:g.38725220A>C	GRCh38
NC_000003.11:g.38766711A>C , CM000665.1:g.38766711A>C	GRCh37
NC_000003.10:g.38741715A>C	NCBI36
NG_031891.2:g.73791T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3182T>G MANE Select	ENSP00000390600.2:p.Leu1061Arg
ENST00000643924.1:c.3179T>G	ENSP00000495595.1:p.Leu1060Arg
ENST00000655275.1:c.3206T>G	ENSP00000499510.1:p.Leu1069Arg
ENST00000449082.2:c.3182T>G	ENSP00000390600.2:p.Leu1061Arg
NM_001293306.2:c.3179T>G	NP_001280235.2:p.Leu1060Arg
NM_001293307.2:c.2888T>G	NP_001280236.2:p.Leu963Arg
NM_006514.3:c.3182T>G	NP_006505.3:p.Leu1061Arg
XM_005265371.2:c.3191T>G	XP_005265428.1:p.Leu1064Arg
XM_011533993.1:c.3188T>G	XP_011532295.1:p.Leu1063Arg
XM_011533994.1:c.2897T>G	XP_011532296.1:p.Leu966Arg
XM_005265371.3:c.3191T>G	XP_005265428.1:p.Leu1064Arg
XM_011533993.2:c.3188T>G	XP_011532295.1:p.Leu1063Arg
XM_011533994.2:c.2897T>G	XP_011532296.1:p.Leu966Arg
NM_006514.4:c.3182T>G MANE Select	NP_006505.4:p.Leu1061Arg