Canonical Allele Identifier: CA6162408
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 498844
dbSNP Id: rs748858240

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71437893G>A , CM000673.2:g.71437893G>A GRCh38
NC_000011.9:g.71148939G>A , CM000673.1:g.71148939G>A GRCh37
NC_000011.8:g.70826587G>A NCBI36
NG_012655.2:g.15539C>T , LRG_340:g.15539C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525346.6:c.882C>T ENSP00000435707.3:p.Thr294=
ENST00000526780.6:c.882C>T ENSP00000435668.2:p.Thr294=
ENST00000527316.6:c.708C>T ENSP00000435047.2:p.Thr236=
ENST00000682708.1:c.933C>T ENSP00000506866.1:p.Thr311=
ENST00000682880.1:c.882C>T ENSP00000507520.1:p.Thr294=
ENST00000683287.1:c.918C>T ENSP00000507607.1:p.Thr306=
ENST00000683714.1:c.882C>T ENSP00000508207.1:p.Thr294=
ENST00000684396.1:n.922C>T
ENST00000685320.1:c.297C>T ENSP00000509319.1:p.Thr99=
ENST00000690257.1:c.786C>T ENSP00000510750.1:p.Thr262=
ENST00000355527.8:c.882C>T MANE Select ENSP00000347717.4:p.Thr294=
ENST00000355527.7:c.882C>T ENSP00000347717.3:p.Thr294=
ENST00000407721.6:c.882C>T ENSP00000384739.2:p.Thr294=
ENST00000525137.1:c.249C>T ENSP00000435956.1:p.Thr83=
ENST00000533800.5:c.132C>T ENSP00000435011.1:p.Thr44=
ENST00000534795.5:c.238C>T
NM_001163817.1:c.882C>T NP_001157289.1:p.Thr294=
NM_001360.2:c.882C>T , LRG_340t1:c.882C>T NP_001351.2:p.Thr294=
XM_011544777.1:c.882C>T XP_011543079.1:p.Thr294=
XM_011544777.2:c.882C>T XP_011543079.1:p.Thr294=
NM_001163817.2:c.882C>T NP_001157289.1:p.Thr294=
NM_001360.3:c.882C>T MANE Select NP_001351.2:p.Thr294=