Canonical Allele Identifier: CA381703209

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 2137191
• ClinVar RCV Id: RCV003062429 ; RCV003235759
• MyVariant Identifiers: chr11:g.71149938A>C (hg19) ; chr11:g.71438892A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71438892A>C , CM000673.2:g.71438892A>C	GRCh38
NC_000011.9:g.71149938A>C , CM000673.1:g.71149938A>C	GRCh37
NC_000011.8:g.70827586A>C	NCBI36
NG_012655.2:g.14540T>G , LRG_340:g.14540T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.818T>G	ENSP00000435707.3:p.Val273Gly
ENST00000526780.6:c.818T>G	ENSP00000435668.2:p.Val273Gly
ENST00000527316.6:c.644T>G	ENSP00000435047.2:p.Val215Gly
ENST00000682708.1:c.869T>G	ENSP00000506866.1:p.Val290Gly
ENST00000682880.1:c.818T>G	ENSP00000507520.1:p.Val273Gly
ENST00000683287.1:c.854T>G	ENSP00000507607.1:p.Val285Gly
ENST00000683714.1:c.818T>G	ENSP00000508207.1:p.Val273Gly
ENST00000684396.1:n.858T>G
ENST00000685320.1:c.233T>G	ENSP00000509319.1:p.Val78Gly
ENST00000690257.1:c.722T>G	ENSP00000510750.1:p.Val241Gly
ENST00000355527.8:c.818T>G MANE Select	ENSP00000347717.4:p.Val273Gly
ENST00000355527.7:c.818T>G	ENSP00000347717.3:p.Val273Gly
ENST00000407721.6:c.818T>G	ENSP00000384739.2:p.Val273Gly
ENST00000525137.1:c.185T>G	ENSP00000435956.1:p.Val62Gly
ENST00000527316.5:c.722T>G	ENSP00000435047.1:p.Val241Gly
ENST00000533800.5:c.68T>G	ENSP00000435011.1:p.Val23Gly
ENST00000534701.1:n.313T>G
ENST00000534795.5:c.174T>G
NM_001163817.1:c.818T>G	NP_001157289.1:p.Val273Gly
NM_001360.2:c.818T>G , LRG_340t1:c.818T>G	NP_001351.2:p.Val273Gly
XM_011544777.1:c.818T>G	XP_011543079.1:p.Val273Gly
XM_011544777.2:c.818T>G	XP_011543079.1:p.Val273Gly
NM_001163817.2:c.818T>G	NP_001157289.1:p.Val273Gly
NM_001360.3:c.818T>G MANE Select	NP_001351.2:p.Val273Gly