Canonical Allele Identifier: CA352167696

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 1051615
• ClinVar RCV Id: RCV001359681
• dbSNP Id: rs377467259
• gnomAD v2: 3-38793973-G-C
• gnomAD v4: 3-38752482-G-C
• MyVariant Identifiers: chr3:g.38793973G>C (hg19) ; chr3:g.38752482G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752482G>C , CM000665.2:g.38752482G>C	GRCh38
NC_000003.11:g.38793973G>C , CM000665.1:g.38793973G>C	GRCh37
NC_000003.10:g.38768977G>C	NCBI36
NG_031891.2:g.46529C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1492C>G MANE Select	ENSP00000390600.2:p.Arg498Gly
ENST00000643924.1:c.1492C>G	ENSP00000495595.1:p.Arg498Gly
ENST00000655275.1:c.1519C>G	ENSP00000499510.1:p.Arg507Gly
ENST00000449082.2:c.1492C>G	ENSP00000390600.2:p.Arg498Gly
NM_001293306.2:c.1492C>G	NP_001280235.2:p.Arg498Gly
NM_001293307.2:c.1462-2298C>G	NP_001280236.2:n.1462-2298C>G
NM_006514.3:c.1492C>G	NP_006505.3:p.Arg498Gly
XM_005265371.2:c.1501C>G	XP_005265428.1:p.Arg501Gly
XM_011533993.1:c.1501C>G	XP_011532295.1:p.Arg501Gly
XM_011533994.1:c.1471-2298C>G	XP_011532296.1:n.1471-2298C>G
XM_005265371.3:c.1501C>G	XP_005265428.1:p.Arg501Gly
XM_011533993.2:c.1501C>G	XP_011532295.1:p.Arg501Gly
XM_011533994.2:c.1471-2298C>G	XP_011532296.1:n.1471-2298C>G
NM_006514.4:c.1492C>G MANE Select	NP_006505.4:p.Arg498Gly