Canonical Allele Identifier: CA340609
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 6785
dbSNP Id: rs80338859

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71435827C>A , CM000673.2:g.71435827C>A GRCh38
NC_000011.9:g.71146873C>A , CM000673.1:g.71146873C>A GRCh37
NC_000011.8:g.70824521C>A NCBI36
NG_012655.2:g.17605G>T , LRG_340:g.17605G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000525346.6:c.976G>T ENSP00000435707.3:p.Val326Leu
ENST00000526780.6:c.976G>T ENSP00000435668.2:p.Val326Leu
ENST00000527316.6:c.802G>T ENSP00000435047.2:p.Val268Leu
ENST00000682708.1:c.1027G>T ENSP00000506866.1:p.Val343Leu
ENST00000683287.1:c.1012G>T ENSP00000507607.1:p.Val338Leu
ENST00000683714.1:c.984G>T ENSP00000508207.1:p.Trp328Cys
ENST00000684396.1:n.1016G>T
ENST00000685320.1:c.391G>T ENSP00000509319.1:p.Val131Leu
ENST00000690257.1:c.880G>T ENSP00000510750.1:p.Val294Leu
ENST00000355527.8:c.976G>T MANE Select ENSP00000347717.4:p.Val326Leu
ENST00000355527.7:c.976G>T ENSP00000347717.3:p.Val326Leu
ENST00000407721.6:c.976G>T ENSP00000384739.2:p.Val326Leu
ENST00000525137.1:c.477G>T ENSP00000435956.1:p.Trp159Cys
ENST00000533800.5:c.226G>T ENSP00000435011.1:p.Val76Leu
ENST00000534795.5:c.319+1985G>T
NM_001163817.1:c.976G>T NP_001157289.1:p.Val326Leu
NM_001360.2:c.976G>T , LRG_340t1:c.976G>T NP_001351.2:p.Val326Leu
XM_011544777.1:c.1110G>T XP_011543079.1:p.Trp370Cys
XM_011544777.2:c.1110G>T XP_011543079.1:p.Trp370Cys
NM_001163817.2:c.976G>T NP_001157289.1:p.Val326Leu
NM_001360.3:c.976G>T MANE Select NP_001351.2:p.Val326Leu