Canonical Allele Identifier: CA433138197
Gene: SCN10A HGNC NCBI

Linked Data

dbSNP Id: rs2125998385
MyVariant Identifiers: chr3:g.38764985T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38723494T>C , CM000665.2:g.38723494T>C GRCh38
NC_000003.11:g.38764985T>C , CM000665.1:g.38764985T>C GRCh37
NC_000003.10:g.38739989T>C NCBI36
NG_031891.2:g.75517A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3288A>G MANE Select ENSP00000390600.2:p.Glu1096=
ENST00000643924.1:c.3285A>G ENSP00000495595.1:p.Glu1095=
ENST00000655275.1:c.3312A>G ENSP00000499510.1:p.Glu1104=
ENST00000449082.2:c.3288A>G ENSP00000390600.2:p.Glu1096=
NM_001293306.2:c.3285A>G NP_001280235.2:p.Glu1095=
NM_001293307.2:c.2994A>G NP_001280236.2:p.Glu998=
NM_006514.3:c.3288A>G NP_006505.3:p.Glu1096=
XM_005265371.2:c.3297A>G XP_005265428.1:p.Glu1099=
XM_011533993.1:c.3294A>G XP_011532295.1:p.Glu1098=
XM_011533994.1:c.3003A>G XP_011532296.1:p.Glu1001=
XM_005265371.3:c.3297A>G XP_005265428.1:p.Glu1099=
XM_011533993.2:c.3294A>G XP_011532295.1:p.Glu1098=
XM_011533994.2:c.3003A>G XP_011532296.1:p.Glu1001=
NM_006514.4:c.3288A>G MANE Select NP_006505.4:p.Glu1096=