Canonical Allele Identifier: CA381702968

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71148899A>G (hg19) ; chr11:g.71437853A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437853A>G , CM000673.2:g.71437853A>G	GRCh38
NC_000011.9:g.71148899A>G , CM000673.1:g.71148899A>G	GRCh37
NC_000011.8:g.70826547A>G	NCBI36
NG_012655.2:g.15579T>C , LRG_340:g.15579T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.922T>C	ENSP00000435707.3:p.Trp308Arg
ENST00000526780.6:c.922T>C	ENSP00000435668.2:p.Trp308Arg
ENST00000527316.6:c.748T>C	ENSP00000435047.2:p.Trp250Arg
ENST00000682708.1:c.973T>C	ENSP00000506866.1:p.Trp325Arg
ENST00000682880.1:c.922T>C	ENSP00000507520.1:p.Trp308Arg
ENST00000683287.1:c.958T>C	ENSP00000507607.1:p.Trp320Arg
ENST00000683714.1:c.922T>C	ENSP00000508207.1:p.Trp308Arg
ENST00000684396.1:n.962T>C
ENST00000685320.1:c.337T>C	ENSP00000509319.1:p.Trp113Arg
ENST00000690257.1:c.826T>C	ENSP00000510750.1:p.Trp276Arg
ENST00000355527.8:c.922T>C MANE Select	ENSP00000347717.4:p.Trp308Arg
ENST00000355527.7:c.922T>C	ENSP00000347717.3:p.Trp308Arg
ENST00000407721.6:c.922T>C	ENSP00000384739.2:p.Trp308Arg
ENST00000525137.1:c.289T>C	ENSP00000435956.1:p.Trp97Arg
ENST00000533800.5:c.172T>C	ENSP00000435011.1:p.Trp58Arg
ENST00000534795.5:c.278T>C
NM_001163817.1:c.922T>C	NP_001157289.1:p.Trp308Arg
NM_001360.2:c.922T>C , LRG_340t1:c.922T>C	NP_001351.2:p.Trp308Arg
XM_011544777.1:c.922T>C	XP_011543079.1:p.Trp308Arg
XM_011544777.2:c.922T>C	XP_011543079.1:p.Trp308Arg
NM_001163817.2:c.922T>C	NP_001157289.1:p.Trp308Arg
NM_001360.3:c.922T>C MANE Select	NP_001351.2:p.Trp308Arg