Canonical Allele Identifier: CA221653

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 93710
• ClinVar RCV Id: RCV000247087 ; RCV000261724 ; RCV000723626 ; RCV002316237
• dbSNP Id: rs144562471
• ExAC: 11:71146481 G / A
• gnomAD v2: 11-71146481-G-A
• gnomAD v3: 11-71435435-G-A
• gnomAD v4: 11-71435435-G-A
• MyVariant Identifiers: chr11:g.71146481G>A (hg19) ; chr11:g.71435435G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435435G>A , CM000673.2:g.71435435G>A	GRCh38
NC_000011.9:g.71146481G>A , CM000673.1:g.71146481G>A	GRCh37
NC_000011.8:g.70824129G>A	NCBI36
NG_012655.2:g.17997C>T , LRG_340:g.17997C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1368C>T	ENSP00000435707.3:p.Gly456=
ENST00000526780.6:c.1368C>T	ENSP00000435668.2:p.Gly456=
ENST00000527316.6:c.1194C>T	ENSP00000435047.2:p.Gly398=
ENST00000682708.1:c.1419C>T	ENSP00000506866.1:p.Gly473=
ENST00000683287.1:c.1404C>T	ENSP00000507607.1:p.Gly468=
ENST00000683714.1:c.*131C>T	ENSP00000508207.1:n.*131C>T
ENST00000684396.1:n.1408C>T
ENST00000685320.1:c.783C>T	ENSP00000509319.1:p.Gly261=
ENST00000690257.1:c.1272C>T	ENSP00000510750.1:p.Gly424=
ENST00000355527.8:c.1368C>T MANE Select	ENSP00000347717.4:p.Gly456=
ENST00000355527.7:c.1368C>T	ENSP00000347717.3:p.Gly456=
ENST00000407721.6:c.1368C>T	ENSP00000384739.2:p.Gly456=
ENST00000525137.1:c.869C>T	ENSP00000435956.1:n.869C>T
ENST00000533800.5:c.611+7C>T	ENSP00000435011.1:n.611+7C>T
ENST00000534795.5:c.319+2377C>T
NM_001163817.1:c.1368C>T	NP_001157289.1:p.Gly456=
NM_001360.2:c.1368C>T , LRG_340t1:c.1368C>T	NP_001351.2:p.Gly456=
XM_011544777.1:c.*131C>T	XP_011543079.1:n.*131C>T
XM_011544777.2:c.*131C>T	XP_011543079.1:n.*131C>T
NM_001163817.2:c.1368C>T	NP_001157289.1:p.Gly456=
NM_001360.3:c.1368C>T MANE Select	NP_001351.2:p.Gly456=