Canonical Allele Identifier: CA381702043

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1563788
• ClinVar RCV Id: RCV002209491
• dbSNP Id: rs2135939894
• MyVariant Identifiers: chr11:g.71146751C>T (hg19) ; chr11:g.71435705C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435705C>T , CM000673.2:g.71435705C>T	GRCh38
NC_000011.9:g.71146751C>T , CM000673.1:g.71146751C>T	GRCh37
NC_000011.8:g.70824399C>T	NCBI36
NG_012655.2:g.17727G>A , LRG_340:g.17727G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1098G>A	ENSP00000435707.3:p.Gly366=
ENST00000526780.6:c.1098G>A	ENSP00000435668.2:p.Gly366=
ENST00000527316.6:c.924G>A	ENSP00000435047.2:p.Gly308=
ENST00000682708.1:c.1149G>A	ENSP00000506866.1:p.Gly383=
ENST00000683287.1:c.1134G>A	ENSP00000507607.1:p.Gly378=
ENST00000683714.1:c.1106G>A	ENSP00000508207.1:p.Gly369Asp
ENST00000684396.1:n.1138G>A
ENST00000685320.1:c.513G>A	ENSP00000509319.1:p.Gly171=
ENST00000690257.1:c.1002G>A	ENSP00000510750.1:p.Gly334=
ENST00000355527.8:c.1098G>A MANE Select	ENSP00000347717.4:p.Gly366=
ENST00000355527.7:c.1098G>A	ENSP00000347717.3:p.Gly366=
ENST00000407721.6:c.1098G>A	ENSP00000384739.2:p.Gly366=
ENST00000525137.1:c.599G>A	ENSP00000435956.1:p.Gly200Asp
ENST00000533800.5:c.348G>A	ENSP00000435011.1:p.Gly116=
ENST00000534795.5:c.319+2107G>A
NM_001163817.1:c.1098G>A	NP_001157289.1:p.Gly366=
NM_001360.2:c.1098G>A , LRG_340t1:c.1098G>A	NP_001351.2:p.Gly366=
XM_011544777.1:c.1232G>A	XP_011543079.1:p.Gly411Asp
XM_011544777.2:c.1232G>A	XP_011543079.1:p.Gly411Asp
NM_001163817.2:c.1098G>A	NP_001157289.1:p.Gly366=
NM_001360.3:c.1098G>A MANE Select	NP_001351.2:p.Gly366=