Canonical Allele Identifier: CA352156648
Gene: SCN10A HGNC NCBI

Linked Data

dbSNP Id: rs1347009711

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38725208C>T , CM000665.2:g.38725208C>T GRCh38
NC_000003.11:g.38766699C>T , CM000665.1:g.38766699C>T GRCh37
NC_000003.10:g.38741703C>T NCBI36
NG_031891.2:g.73803G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3194G>A MANE Select ENSP00000390600.2:p.Trp1065Ter
ENST00000643924.1:c.3191G>A ENSP00000495595.1:p.Trp1064Ter
ENST00000655275.1:c.3218G>A ENSP00000499510.1:p.Trp1073Ter
ENST00000449082.2:c.3194G>A ENSP00000390600.2:p.Trp1065Ter
NM_001293306.2:c.3191G>A NP_001280235.2:p.Trp1064Ter
NM_001293307.2:c.2900G>A NP_001280236.2:p.Trp967Ter
NM_006514.3:c.3194G>A NP_006505.3:p.Trp1065Ter
XM_005265371.2:c.3203G>A XP_005265428.1:p.Trp1068Ter
XM_011533993.1:c.3200G>A XP_011532295.1:p.Trp1067Ter
XM_011533994.1:c.2909G>A XP_011532296.1:p.Trp970Ter
XM_005265371.3:c.3203G>A XP_005265428.1:p.Trp1068Ter
XM_011533993.2:c.3200G>A XP_011532295.1:p.Trp1067Ter
XM_011533994.2:c.2909G>A XP_011532296.1:p.Trp970Ter
NM_006514.4:c.3194G>A MANE Select NP_006505.4:p.Trp1065Ter