Canonical Allele Identifier: CA352156808
Gene: SCN10A HGNC NCBI

Linked Data

gnomAD v4: 3-38725290-T-C

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3112A>G MANE Select ENSP00000390600.2:p.Arg1038Gly
ENST00000643924.1:c.3109A>G ENSP00000495595.1:p.Arg1037Gly
ENST00000655275.1:c.3136A>G ENSP00000499510.1:p.Arg1046Gly
ENST00000449082.2:c.3112A>G ENSP00000390600.2:p.Arg1038Gly
NM_001293306.2:c.3109A>G NP_001280235.2:p.Arg1037Gly
NM_001293307.2:c.2818A>G NP_001280236.2:p.Arg940Gly
NM_006514.3:c.3112A>G NP_006505.3:p.Arg1038Gly
XM_005265371.2:c.3121A>G XP_005265428.1:p.Arg1041Gly
XM_011533993.1:c.3118A>G XP_011532295.1:p.Arg1040Gly
XM_011533994.1:c.2827A>G XP_011532296.1:p.Arg943Gly
XM_005265371.3:c.3121A>G XP_005265428.1:p.Arg1041Gly
XM_011533993.2:c.3118A>G XP_011532295.1:p.Arg1040Gly
XM_011533994.2:c.2827A>G XP_011532296.1:p.Arg943Gly
NM_006514.4:c.3112A>G MANE Select NP_006505.4:p.Arg1038Gly