Canonical Allele Identifier: CA16041548

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 370588
• ClinVar RCV Id: RCV000409015
• dbSNP Id: rs1057516610
• gnomAD v4: 11-71435812-G-A
• MyVariant Identifiers: chr11:g.71146858G>A (hg19) ; chr11:g.71435812G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435812G>A , CM000673.2:g.71435812G>A	GRCh38
NC_000011.9:g.71146858G>A , CM000673.1:g.71146858G>A	GRCh37
NC_000011.8:g.70824506G>A	NCBI36
NG_012655.2:g.17620C>T , LRG_340:g.17620C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.991C>T	ENSP00000435707.3:p.Gln331Ter
ENST00000526780.6:c.991C>T	ENSP00000435668.2:p.Gln331Ter
ENST00000527316.6:c.817C>T	ENSP00000435047.2:p.Gln273Ter
ENST00000682708.1:c.1042C>T	ENSP00000506866.1:p.Gln348Ter
ENST00000683287.1:c.1027C>T	ENSP00000507607.1:p.Gln343Ter
ENST00000683714.1:c.999C>T	ENSP00000508207.1:p.Cys333=
ENST00000684396.1:n.1031C>T
ENST00000685320.1:c.406C>T	ENSP00000509319.1:p.Gln136Ter
ENST00000690257.1:c.895C>T	ENSP00000510750.1:p.Gln299Ter
ENST00000355527.8:c.991C>T MANE Select	ENSP00000347717.4:p.Gln331Ter
ENST00000355527.7:c.991C>T	ENSP00000347717.3:p.Gln331Ter
ENST00000407721.6:c.991C>T	ENSP00000384739.2:p.Gln331Ter
ENST00000525137.1:c.492C>T	ENSP00000435956.1:p.Cys164=
ENST00000533800.5:c.241C>T	ENSP00000435011.1:p.Gln81Ter
ENST00000534795.5:c.319+2000C>T
NM_001163817.1:c.991C>T	NP_001157289.1:p.Gln331Ter
NM_001360.2:c.991C>T , LRG_340t1:c.991C>T	NP_001351.2:p.Gln331Ter
XM_011544777.1:c.1125C>T	XP_011543079.1:p.Cys375=
XM_011544777.2:c.1125C>T	XP_011543079.1:p.Cys375=
NM_001163817.2:c.991C>T	NP_001157289.1:p.Gln331Ter
NM_001360.3:c.991C>T MANE Select	NP_001351.2:p.Gln331Ter