Canonical Allele Identifier: CA2573136292

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 1470457
• ClinVar RCV Id: RCV001964184
• dbSNP Id: rs2126023600

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752330_38752338dup , CM000665.2:g.38752330_38752338dup	GRCh38
NC_000003.11:g.38793821_38793829dup , CM000665.1:g.38793821_38793829dup	GRCh37
NC_000003.10:g.38768825_38768833dup	NCBI36
NG_031891.2:g.46674_46682dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1637_1645dup MANE Select	ENSP00000390600.2:p.Pro548_Leu549insGlnGlyPro
ENST00000643924.1:c.1637_1645dup	ENSP00000495595.1:p.Pro548_Leu549insGlnGlyPro
ENST00000655275.1:c.1664_1672dup	ENSP00000499510.1:p.Pro557_Leu558insGlnGlyPro
ENST00000449082.2:c.1637_1645dup	ENSP00000390600.2:p.Pro548_Leu549insGlnGlyPro
NM_001293306.2:c.1637_1645dup	NP_001280235.2:p.Pro548_Leu549insGlnGlyPro
NM_001293307.2:c.1462-2153_1462-2145dup	NP_001280236.2:n.1462-2153_1462-2145dup
NM_006514.3:c.1637_1645dup	NP_006505.3:p.Pro548_Leu549insGlnGlyPro
XM_005265371.2:c.1646_1654dup	XP_005265428.1:p.Pro551_Leu552insGlnGlyPro
XM_011533993.1:c.1646_1654dup	XP_011532295.1:p.Pro551_Leu552insGlnGlyPro
XM_011533994.1:c.1471-2153_1471-2145dup	XP_011532296.1:n.1471-2153_1471-2145dup
XM_005265371.3:c.1646_1654dup	XP_005265428.1:p.Pro551_Leu552insGlnGlyPro
XM_011533993.2:c.1646_1654dup	XP_011532295.1:p.Pro551_Leu552insGlnGlyPro
XM_011533994.2:c.1471-2153_1471-2145dup	XP_011532296.1:n.1471-2153_1471-2145dup
NM_006514.4:c.1637_1645dup MANE Select	NP_006505.4:p.Pro548_Leu549insGlnGlyPro