Canonical Allele Identifier: CA1047011027

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 2563695
• ClinVar RCV Id: RCV003306024
• dbSNP Id: rs2063754469
• gnomAD v3: 3-38752236-CA-C
• gnomAD v4: 3-38752236-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752237del , CM000665.2:g.38752237del	GRCh38
NC_000003.11:g.38793728del , CM000665.1:g.38793728del	GRCh37
NC_000003.10:g.38768732del	NCBI36
NG_031891.2:g.46774del

Transcript Alleles

HGVS	Amino-acid change
ENST00000449082.3:c.1737del MANE Select	ENSP00000390600.2:p.Gly580GlufsTer22
ENST00000643924.1:c.1737del	ENSP00000495595.1:p.Gly580GlufsTer22
ENST00000655275.1:c.1764del	ENSP00000499510.1:p.Gly589GlufsTer22
ENST00000449082.2:c.1737del	ENSP00000390600.2:p.Gly580GlufsTer22
NM_001293306.2:c.1737del	NP_001280235.2:p.Gly580GlufsTer22
NM_001293307.2:c.1462-2053del	NP_001280236.2:n.1462-2053del
NM_006514.3:c.1737del	NP_006505.3:p.Gly580GlufsTer22
XM_005265371.2:c.1746del	XP_005265428.1:p.Gly583GlufsTer22
XM_011533993.1:c.1746del	XP_011532295.1:p.Gly583GlufsTer22
XM_011533994.1:c.1471-2053del	XP_011532296.1:n.1471-2053del
XM_005265371.3:c.1746del	XP_005265428.1:p.Gly583GlufsTer22
XM_011533993.2:c.1746del	XP_011532295.1:p.Gly583GlufsTer22
XM_011533994.2:c.1471-2053del	XP_011532296.1:n.1471-2053del
NM_006514.4:c.1737del MANE Select	NP_006505.4:p.Gly580GlufsTer22