Canonical Allele Identifier: CA381701741

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 2802483
• ClinVar RCV Id: RCV003618310
• dbSNP Id: rs1308727027
• MyVariant Identifiers: chr11:g.71146688C>A (hg19) ; chr11:g.71435642C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435642C>A , CM000673.2:g.71435642C>A	GRCh38
NC_000011.9:g.71146688C>A , CM000673.1:g.71146688C>A	GRCh37
NC_000011.8:g.70824336C>A	NCBI36
NG_012655.2:g.17790G>T , LRG_340:g.17790G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1161G>T	ENSP00000435707.3:p.Gly387=
ENST00000526780.6:c.1161G>T	ENSP00000435668.2:p.Gly387=
ENST00000527316.6:c.987G>T	ENSP00000435047.2:p.Gly329=
ENST00000682708.1:c.1212G>T	ENSP00000506866.1:p.Gly404=
ENST00000683287.1:c.1197G>T	ENSP00000507607.1:p.Gly399=
ENST00000683714.1:c.1169G>T	ENSP00000508207.1:p.Gly390Val
ENST00000684396.1:n.1201G>T
ENST00000685320.1:c.576G>T	ENSP00000509319.1:p.Gly192=
ENST00000690257.1:c.1065G>T	ENSP00000510750.1:p.Gly355=
ENST00000355527.8:c.1161G>T MANE Select	ENSP00000347717.4:p.Gly387=
ENST00000355527.7:c.1161G>T	ENSP00000347717.3:p.Gly387=
ENST00000407721.6:c.1161G>T	ENSP00000384739.2:p.Gly387=
ENST00000525137.1:c.662G>T	ENSP00000435956.1:p.Gly221Val
ENST00000533800.5:c.411G>T	ENSP00000435011.1:p.Gly137=
ENST00000534795.5:c.319+2170G>T
NM_001163817.1:c.1161G>T	NP_001157289.1:p.Gly387=
NM_001360.2:c.1161G>T , LRG_340t1:c.1161G>T	NP_001351.2:p.Gly387=
XM_011544777.1:c.1295G>T	XP_011543079.1:p.Gly432Val
XM_011544777.2:c.1295G>T	XP_011543079.1:p.Gly432Val
NM_001163817.2:c.1161G>T	NP_001157289.1:p.Gly387=
NM_001360.3:c.1161G>T MANE Select	NP_001351.2:p.Gly387=