Canonical Allele Identifier: CA916873990

Gene: SCN10A

Linked Data

• dbSNP Id: rs1576002515
• gnomAD v4: 3-38752485-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752489del , CM000665.2:g.38752489del	GRCh38
NC_000003.11:g.38793980del , CM000665.1:g.38793980del	GRCh37
NC_000003.10:g.38768984del	NCBI36
NG_031891.2:g.46525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1488del MANE Select	ENSP00000390600.2:p.Lys496AsnfsTer?
ENST00000643924.1:c.1488del	ENSP00000495595.1:p.Lys496AsnfsTer?
ENST00000655275.1:c.1515del	ENSP00000499510.1:p.Lys505AsnfsTer?
ENST00000449082.2:c.1488del	ENSP00000390600.2:p.Lys496AsnfsTer?
NM_001293306.2:c.1488del	NP_001280235.2:p.Lys496AsnfsTer?
NM_001293307.2:c.1462-2302del	NP_001280236.2:n.1462-2302del
NM_006514.3:c.1488del	NP_006505.3:p.Lys496AsnfsTer?
XM_005265371.2:c.1497del	XP_005265428.1:p.Lys499AsnfsTer?
XM_011533993.1:c.1497del	XP_011532295.1:p.Lys499AsnfsTer?
XM_011533994.1:c.1471-2302del	XP_011532296.1:n.1471-2302del
XM_005265371.3:c.1497del	XP_005265428.1:p.Lys499AsnfsTer?
XM_011533993.2:c.1497del	XP_011532295.1:p.Lys499AsnfsTer?
XM_011533994.2:c.1471-2302del	XP_011532296.1:n.1471-2302del
NM_006514.4:c.1488del MANE Select	NP_006505.4:p.Lys496AsnfsTer?