Canonical Allele Identifier: CA352167687

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 3068525
• ClinVar RCV Id: RCV003993716
• MyVariant Identifiers: chr3:g.38793969G>T (hg19) ; chr3:g.38752478G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752478G>T , CM000665.2:g.38752478G>T	GRCh38
NC_000003.11:g.38793969G>T , CM000665.1:g.38793969G>T	GRCh37
NC_000003.10:g.38768973G>T	NCBI36
NG_031891.2:g.46533C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1496C>A MANE Select	ENSP00000390600.2:p.Ala499Asp
ENST00000643924.1:c.1496C>A	ENSP00000495595.1:p.Ala499Asp
ENST00000655275.1:c.1523C>A	ENSP00000499510.1:p.Ala508Asp
ENST00000449082.2:c.1496C>A	ENSP00000390600.2:p.Ala499Asp
NM_001293306.2:c.1496C>A	NP_001280235.2:p.Ala499Asp
NM_001293307.2:c.1462-2294C>A	NP_001280236.2:n.1462-2294C>A
NM_006514.3:c.1496C>A	NP_006505.3:p.Ala499Asp
XM_005265371.2:c.1505C>A	XP_005265428.1:p.Ala502Asp
XM_011533993.1:c.1505C>A	XP_011532295.1:p.Ala502Asp
XM_011533994.1:c.1471-2294C>A	XP_011532296.1:n.1471-2294C>A
XM_005265371.3:c.1505C>A	XP_005265428.1:p.Ala502Asp
XM_011533993.2:c.1505C>A	XP_011532295.1:p.Ala502Asp
XM_011533994.2:c.1471-2294C>A	XP_011532296.1:n.1471-2294C>A
NM_006514.4:c.1496C>A MANE Select	NP_006505.4:p.Ala499Asp