Canonical Allele Identifier: CA352167315

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 1433160
• ClinVar RCV Id: RCV001960038
• dbSNP Id: rs2063756062
• gnomAD v4: 3-38752335-C-T
• MyVariant Identifiers: chr3:g.38793826C>T (hg19) ; chr3:g.38752335C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752335C>T , CM000665.2:g.38752335C>T	GRCh38
NC_000003.11:g.38793826C>T , CM000665.1:g.38793826C>T	GRCh37
NC_000003.10:g.38768830C>T	NCBI36
NG_031891.2:g.46676G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000449082.3:c.1639G>A MANE Select	ENSP00000390600.2:p.Gly547Ser
ENST00000643924.1:c.1639G>A	ENSP00000495595.1:p.Gly547Ser
ENST00000655275.1:c.1666G>A	ENSP00000499510.1:p.Gly556Ser
ENST00000449082.2:c.1639G>A	ENSP00000390600.2:p.Gly547Ser
NM_001293306.2:c.1639G>A	NP_001280235.2:p.Gly547Ser
NM_001293307.2:c.1462-2151G>A	NP_001280236.2:n.1462-2151G>A
NM_006514.3:c.1639G>A	NP_006505.3:p.Gly547Ser
XM_005265371.2:c.1648G>A	XP_005265428.1:p.Gly550Ser
XM_011533993.1:c.1648G>A	XP_011532295.1:p.Gly550Ser
XM_011533994.1:c.1471-2151G>A	XP_011532296.1:n.1471-2151G>A
XM_005265371.3:c.1648G>A	XP_005265428.1:p.Gly550Ser
XM_011533993.2:c.1648G>A	XP_011532295.1:p.Gly550Ser
XM_011533994.2:c.1471-2151G>A	XP_011532296.1:n.1471-2151G>A
NM_006514.4:c.1639G>A MANE Select	NP_006505.4:p.Gly547Ser