Canonical Allele Identifier: CA433138558

Gene: SCN10A

Linked Data

• dbSNP Id: rs1488359815
• gnomAD v2: 3-38766781-T-G
• gnomAD v3: 3-38725290-T-G
• gnomAD v4: 3-38725290-T-G
• MyVariant Identifiers: chr3:g.38766781T>G (hg19) ; chr3:g.38725290T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725290T>G , CM000665.2:g.38725290T>G	GRCh38
NC_000003.11:g.38766781T>G , CM000665.1:g.38766781T>G	GRCh37
NC_000003.10:g.38741785T>G	NCBI36
NG_031891.2:g.73721A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3112A>C MANE Select	ENSP00000390600.2:p.Arg1038=
ENST00000643924.1:c.3109A>C	ENSP00000495595.1:p.Arg1037=
ENST00000655275.1:c.3136A>C	ENSP00000499510.1:p.Arg1046=
ENST00000449082.2:c.3112A>C	ENSP00000390600.2:p.Arg1038=
NM_001293306.2:c.3109A>C	NP_001280235.2:p.Arg1037=
NM_001293307.2:c.2818A>C	NP_001280236.2:p.Arg940=
NM_006514.3:c.3112A>C	NP_006505.3:p.Arg1038=
XM_005265371.2:c.3121A>C	XP_005265428.1:p.Arg1041=
XM_011533993.1:c.3118A>C	XP_011532295.1:p.Arg1040=
XM_011533994.1:c.2827A>C	XP_011532296.1:p.Arg943=
XM_005265371.3:c.3121A>C	XP_005265428.1:p.Arg1041=
XM_011533993.2:c.3118A>C	XP_011532295.1:p.Arg1040=
XM_011533994.2:c.2827A>C	XP_011532296.1:p.Arg943=
NM_006514.4:c.3112A>C MANE Select	NP_006505.4:p.Arg1038=