Canonical Allele Identifier: CA352156843
Gene: SCN10A HGNC NCBI

Linked Data

gnomAD v4: 3-38725306-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38725306C>A , CM000665.2:g.38725306C>A GRCh38
NC_000003.11:g.38766797C>A , CM000665.1:g.38766797C>A GRCh37
NC_000003.10:g.38741801C>A NCBI36
NG_031891.2:g.73705G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3096G>T MANE Select ENSP00000390600.2:p.Gln1032His
ENST00000643924.1:c.3093G>T ENSP00000495595.1:p.Gln1031His
ENST00000655275.1:c.3120G>T ENSP00000499510.1:p.Gln1040His
ENST00000449082.2:c.3096G>T ENSP00000390600.2:p.Gln1032His
NM_001293306.2:c.3093G>T NP_001280235.2:p.Gln1031His
NM_001293307.2:c.2802G>T NP_001280236.2:p.Gln934His
NM_006514.3:c.3096G>T NP_006505.3:p.Gln1032His
XM_005265371.2:c.3105G>T XP_005265428.1:p.Gln1035His
XM_011533993.1:c.3102G>T XP_011532295.1:p.Gln1034His
XM_011533994.1:c.2811G>T XP_011532296.1:p.Gln937His
XM_005265371.3:c.3105G>T XP_005265428.1:p.Gln1035His
XM_011533993.2:c.3102G>T XP_011532295.1:p.Gln1034His
XM_011533994.2:c.2811G>T XP_011532296.1:p.Gln937His
NM_006514.4:c.3096G>T MANE Select NP_006505.4:p.Gln1032His