Canonical Allele Identifier: CA1047001803

Gene: SCN10A

Linked Data

• dbSNP Id: rs2063441535
• gnomAD v3: 3-38725276-G-GA
• gnomAD v4: 3-38725276-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725276_38725277insA , CM000665.2:g.38725276_38725277insA	GRCh38
NC_000003.11:g.38766767_38766768insA , CM000665.1:g.38766767_38766768insA	GRCh37
NC_000003.10:g.38741771_38741772insA	NCBI36
NG_031891.2:g.73734_73735insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3125_3126insT MANE Select	ENSP00000390600.2:p.Leu1043ProfsTer13
ENST00000643924.1:c.3122_3123insT	ENSP00000495595.1:p.Leu1042ProfsTer13
ENST00000655275.1:c.3149_3150insT	ENSP00000499510.1:p.Leu1051ProfsTer13
ENST00000449082.2:c.3125_3126insT	ENSP00000390600.2:p.Leu1043ProfsTer13
NM_001293306.2:c.3122_3123insT	NP_001280235.2:p.Leu1042ProfsTer13
NM_001293307.2:c.2831_2832insT	NP_001280236.2:p.Leu945ProfsTer13
NM_006514.3:c.3125_3126insT	NP_006505.3:p.Leu1043ProfsTer13
XM_005265371.2:c.3134_3135insT	XP_005265428.1:p.Leu1046ProfsTer13
XM_011533993.1:c.3131_3132insT	XP_011532295.1:p.Leu1045ProfsTer13
XM_011533994.1:c.2840_2841insT	XP_011532296.1:p.Leu948ProfsTer13
XM_005265371.3:c.3134_3135insT	XP_005265428.1:p.Leu1046ProfsTer13
XM_011533993.2:c.3131_3132insT	XP_011532295.1:p.Leu1045ProfsTer13
XM_011533994.2:c.2840_2841insT	XP_011532296.1:p.Leu948ProfsTer13
NM_006514.4:c.3125_3126insT MANE Select	NP_006505.4:p.Leu1043ProfsTer13