Canonical Allele Identifier: CA2320832
Gene: SCN10A HGNC NCBI

Linked Data

ClinVar Variation Id: 938804
dbSNP Id: rs372716583
gnomAD v2: 3-38793972-C-T
gnomAD v3: 3-38752481-C-T
gnomAD v4: 3-38752481-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38752481C>T , CM000665.2:g.38752481C>T GRCh38
NC_000003.11:g.38793972C>T , CM000665.1:g.38793972C>T GRCh37
NC_000003.10:g.38768976C>T NCBI36
NG_031891.2:g.46530G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.1493G>A MANE Select ENSP00000390600.2:p.Arg498Gln
ENST00000643924.1:c.1493G>A ENSP00000495595.1:p.Arg498Gln
ENST00000655275.1:c.1520G>A ENSP00000499510.1:p.Arg507Gln
ENST00000449082.2:c.1493G>A ENSP00000390600.2:p.Arg498Gln
NM_001293306.2:c.1493G>A NP_001280235.2:p.Arg498Gln
NM_001293307.2:c.1462-2297G>A NP_001280236.2:n.1462-2297G>A
NM_006514.3:c.1493G>A NP_006505.3:p.Arg498Gln
XM_005265371.2:c.1502G>A XP_005265428.1:p.Arg501Gln
XM_011533993.1:c.1502G>A XP_011532295.1:p.Arg501Gln
XM_011533994.1:c.1471-2297G>A XP_011532296.1:n.1471-2297G>A
XM_005265371.3:c.1502G>A XP_005265428.1:p.Arg501Gln
XM_011533993.2:c.1502G>A XP_011532295.1:p.Arg501Gln
XM_011533994.2:c.1471-2297G>A XP_011532296.1:n.1471-2297G>A
NM_006514.4:c.1493G>A MANE Select NP_006505.4:p.Arg498Gln