Canonical Allele Identifier: CA542615840

Gene: SCN10A

Linked Data

• dbSNP Id: rs1239503046
• gnomAD v2: 3-38793958-TGCCATGACTA-T
• gnomAD v4: 3-38752467-TGCCATGACTA-T
• MyVariant Identifiers: chr3:g.38793959_38793968del (hg19) ; chr3:g.38752468_38752477del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752471_38752480del , CM000665.2:g.38752471_38752480del	GRCh38
NC_000003.11:g.38793962_38793971del , CM000665.1:g.38793962_38793971del	GRCh37
NC_000003.10:g.38768966_38768975del	NCBI36
NG_031891.2:g.46534_46543del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1497_1506del MANE Select	ENSP00000390600.2:p.Ser500ValfsTer?
ENST00000643924.1:c.1497_1506del	ENSP00000495595.1:p.Ser500ValfsTer?
ENST00000655275.1:c.1524_1533del	ENSP00000499510.1:p.Ser509ValfsTer?
ENST00000449082.2:c.1497_1506del	ENSP00000390600.2:p.Ser500ValfsTer?
NM_001293306.2:c.1497_1506del	NP_001280235.2:p.Ser500ValfsTer?
NM_001293307.2:c.1462-2293_1462-2284del	NP_001280236.2:n.1462-2293_1462-2284del
NM_006514.3:c.1497_1506del	NP_006505.3:p.Ser500ValfsTer?
XM_005265371.2:c.1506_1515del	XP_005265428.1:p.Ser503ValfsTer?
XM_011533993.1:c.1506_1515del	XP_011532295.1:p.Ser503ValfsTer?
XM_011533994.1:c.1471-2293_1471-2284del	XP_011532296.1:n.1471-2293_1471-2284del
XM_005265371.3:c.1506_1515del	XP_005265428.1:p.Ser503ValfsTer?
XM_011533993.2:c.1506_1515del	XP_011532295.1:p.Ser503ValfsTer?
XM_011533994.2:c.1471-2293_1471-2284del	XP_011532296.1:n.1471-2293_1471-2284del
NM_006514.4:c.1497_1506del MANE Select	NP_006505.4:p.Ser500ValfsTer?