Canonical Allele Identifier: CA381702995

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71148911A>C (hg19) ; chr11:g.71437865A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437865A>C , CM000673.2:g.71437865A>C	GRCh38
NC_000011.9:g.71148911A>C , CM000673.1:g.71148911A>C	GRCh37
NC_000011.8:g.70826559A>C	NCBI36
NG_012655.2:g.15567T>G , LRG_340:g.15567T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.910T>G	ENSP00000435707.3:p.Trp304Gly
ENST00000526780.6:c.910T>G	ENSP00000435668.2:p.Trp304Gly
ENST00000527316.6:c.736T>G	ENSP00000435047.2:p.Trp246Gly
ENST00000682708.1:c.961T>G	ENSP00000506866.1:p.Trp321Gly
ENST00000682880.1:c.910T>G	ENSP00000507520.1:p.Trp304Gly
ENST00000683287.1:c.946T>G	ENSP00000507607.1:p.Trp316Gly
ENST00000683714.1:c.910T>G	ENSP00000508207.1:p.Trp304Gly
ENST00000684396.1:n.950T>G
ENST00000685320.1:c.325T>G	ENSP00000509319.1:p.Trp109Gly
ENST00000690257.1:c.814T>G	ENSP00000510750.1:p.Trp272Gly
ENST00000355527.8:c.910T>G MANE Select	ENSP00000347717.4:p.Trp304Gly
ENST00000355527.7:c.910T>G	ENSP00000347717.3:p.Trp304Gly
ENST00000407721.6:c.910T>G	ENSP00000384739.2:p.Trp304Gly
ENST00000525137.1:c.277T>G	ENSP00000435956.1:p.Trp93Gly
ENST00000533800.5:c.160T>G	ENSP00000435011.1:p.Trp54Gly
ENST00000534795.5:c.266T>G
NM_001163817.1:c.910T>G	NP_001157289.1:p.Trp304Gly
NM_001360.2:c.910T>G , LRG_340t1:c.910T>G	NP_001351.2:p.Trp304Gly
XM_011544777.1:c.910T>G	XP_011543079.1:p.Trp304Gly
XM_011544777.2:c.910T>G	XP_011543079.1:p.Trp304Gly
NM_001163817.2:c.910T>G	NP_001157289.1:p.Trp304Gly
NM_001360.3:c.910T>G MANE Select	NP_001351.2:p.Trp304Gly