Canonical Allele Identifier: CA352167162

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 2448845
• ClinVar RCV Id: RCV003168386
• dbSNP Id: rs1169933908
• MyVariant Identifiers: chr3:g.38793757G>T (hg19) ; chr3:g.38752266G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752266G>T , CM000665.2:g.38752266G>T	GRCh38
NC_000003.11:g.38793757G>T , CM000665.1:g.38793757G>T	GRCh37
NC_000003.10:g.38768761G>T	NCBI36
NG_031891.2:g.46745C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1708C>A MANE Select	ENSP00000390600.2:p.Gln570Lys
ENST00000643924.1:c.1708C>A	ENSP00000495595.1:p.Gln570Lys
ENST00000655275.1:c.1735C>A	ENSP00000499510.1:p.Gln579Lys
ENST00000449082.2:c.1708C>A	ENSP00000390600.2:p.Gln570Lys
NM_001293306.2:c.1708C>A	NP_001280235.2:p.Gln570Lys
NM_001293307.2:c.1462-2082C>A	NP_001280236.2:n.1462-2082C>A
NM_006514.3:c.1708C>A	NP_006505.3:p.Gln570Lys
XM_005265371.2:c.1717C>A	XP_005265428.1:p.Gln573Lys
XM_011533993.1:c.1717C>A	XP_011532295.1:p.Gln573Lys
XM_011533994.1:c.1471-2082C>A	XP_011532296.1:n.1471-2082C>A
XM_005265371.3:c.1717C>A	XP_005265428.1:p.Gln573Lys
XM_011533993.2:c.1717C>A	XP_011532295.1:p.Gln573Lys
XM_011533994.2:c.1471-2082C>A	XP_011532296.1:n.1471-2082C>A
NM_006514.4:c.1708C>A MANE Select	NP_006505.4:p.Gln570Lys