Canonical Allele Identifier: CA381703183

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71149924C>G (hg19) ; chr11:g.71438878C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71438878C>G , CM000673.2:g.71438878C>G	GRCh38
NC_000011.9:g.71149924C>G , CM000673.1:g.71149924C>G	GRCh37
NC_000011.8:g.70827572C>G	NCBI36
NG_012655.2:g.14554G>C , LRG_340:g.14554G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.831+1G>C	ENSP00000435707.3:n.831+1G>C
ENST00000526780.6:c.831+1G>C	ENSP00000435668.2:n.831+1G>C
ENST00000527316.6:c.657+1G>C	ENSP00000435047.2:n.657+1G>C
ENST00000682708.1:c.882+1G>C	ENSP00000506866.1:n.882+1G>C
ENST00000682880.1:c.831+1G>C	ENSP00000507520.1:n.831+1G>C
ENST00000683287.1:c.867+1G>C	ENSP00000507607.1:n.867+1G>C
ENST00000683714.1:c.831+1G>C	ENSP00000508207.1:n.831+1G>C
ENST00000684396.1:n.871+1G>C
ENST00000685320.1:c.246+1G>C	ENSP00000509319.1:n.246+1G>C
ENST00000690257.1:c.735+1G>C	ENSP00000510750.1:n.735+1G>C
ENST00000355527.8:c.831+1G>C MANE Select	ENSP00000347717.4:n.831+1G>C
ENST00000355527.7:c.831+1G>C	ENSP00000347717.3:n.831+1G>C
ENST00000407721.6:c.831+1G>C	ENSP00000384739.2:n.831+1G>C
ENST00000525137.1:c.198+1G>C	ENSP00000435956.1:n.198+1G>C
ENST00000527316.5:c.735+1G>C	ENSP00000435047.1:n.735+1G>C
ENST00000533800.5:c.81+1G>C	ENSP00000435011.1:n.81+1G>C
ENST00000534701.1:n.327G>C
ENST00000534795.5:c.187+1G>C
NM_001163817.1:c.831+1G>C	NP_001157289.1:n.831+1G>C
NM_001360.2:c.831+1G>C , LRG_340t1:c.831+1G>C	NP_001351.2:n.831+1G>C
XM_011544777.1:c.831+1G>C	XP_011543079.1:n.831+1G>C
XM_011544777.2:c.831+1G>C	XP_011543079.1:n.831+1G>C
NM_001163817.2:c.831+1G>C	NP_001157289.1:n.831+1G>C
NM_001360.3:c.831+1G>C MANE Select	NP_001351.2:n.831+1G>C