Canonical Allele Identifier: CA381703113

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71148963C>G (hg19) ; chr11:g.71437917C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437917C>G , CM000673.2:g.71437917C>G	GRCh38
NC_000011.9:g.71148963C>G , CM000673.1:g.71148963C>G	GRCh37
NC_000011.8:g.70826611C>G	NCBI36
NG_012655.2:g.15515G>C , LRG_340:g.15515G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.858G>C	ENSP00000435707.3:p.Trp286Cys
ENST00000526780.6:c.858G>C	ENSP00000435668.2:p.Trp286Cys
ENST00000527316.6:c.684G>C	ENSP00000435047.2:p.Trp228Cys
ENST00000682708.1:c.909G>C	ENSP00000506866.1:p.Trp303Cys
ENST00000682880.1:c.858G>C	ENSP00000507520.1:p.Trp286Cys
ENST00000683287.1:c.894G>C	ENSP00000507607.1:p.Trp298Cys
ENST00000683714.1:c.858G>C	ENSP00000508207.1:p.Trp286Cys
ENST00000684396.1:n.898G>C
ENST00000685320.1:c.273G>C	ENSP00000509319.1:p.Trp91Cys
ENST00000690257.1:c.762G>C	ENSP00000510750.1:p.Trp254Cys
ENST00000355527.8:c.858G>C MANE Select	ENSP00000347717.4:p.Trp286Cys
ENST00000355527.7:c.858G>C	ENSP00000347717.3:p.Trp286Cys
ENST00000407721.6:c.858G>C	ENSP00000384739.2:p.Trp286Cys
ENST00000525137.1:c.225G>C	ENSP00000435956.1:p.Trp75Cys
ENST00000527316.5:c.762G>C	ENSP00000435047.1:p.Trp254Cys
ENST00000533800.5:c.108G>C	ENSP00000435011.1:p.Trp36Cys
ENST00000534795.5:c.214G>C
NM_001163817.1:c.858G>C	NP_001157289.1:p.Trp286Cys
NM_001360.2:c.858G>C , LRG_340t1:c.858G>C	NP_001351.2:p.Trp286Cys
XM_011544777.1:c.858G>C	XP_011543079.1:p.Trp286Cys
XM_011544777.2:c.858G>C	XP_011543079.1:p.Trp286Cys
NM_001163817.2:c.858G>C	NP_001157289.1:p.Trp286Cys
NM_001360.3:c.858G>C MANE Select	NP_001351.2:p.Trp286Cys