Canonical Allele Identifier: CA381702411

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 2696497
• ClinVar RCV Id: RCV003507603
• gnomAD v4: 11-71435786-G-C
• MyVariant Identifiers: chr11:g.71146832G>C (hg19) ; chr11:g.71435786G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435786G>C , CM000673.2:g.71435786G>C	GRCh38
NC_000011.9:g.71146832G>C , CM000673.1:g.71146832G>C	GRCh37
NC_000011.8:g.70824480G>C	NCBI36
NG_012655.2:g.17646C>G , LRG_340:g.17646C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1017C>G	ENSP00000435707.3:p.Gly339=
ENST00000526780.6:c.1017C>G	ENSP00000435668.2:p.Gly339=
ENST00000527316.6:c.843C>G	ENSP00000435047.2:p.Gly281=
ENST00000682708.1:c.1068C>G	ENSP00000506866.1:p.Gly356=
ENST00000683287.1:c.1053C>G	ENSP00000507607.1:p.Gly351=
ENST00000683714.1:c.1025C>G	ENSP00000508207.1:p.Ala342Gly
ENST00000684396.1:n.1057C>G
ENST00000685320.1:c.432C>G	ENSP00000509319.1:p.Gly144=
ENST00000690257.1:c.921C>G	ENSP00000510750.1:p.Gly307=
ENST00000355527.8:c.1017C>G MANE Select	ENSP00000347717.4:p.Gly339=
ENST00000355527.7:c.1017C>G	ENSP00000347717.3:p.Gly339=
ENST00000407721.6:c.1017C>G	ENSP00000384739.2:p.Gly339=
ENST00000525137.1:c.518C>G	ENSP00000435956.1:p.Ala173Gly
ENST00000533800.5:c.267C>G	ENSP00000435011.1:p.Gly89=
ENST00000534795.5:c.319+2026C>G
NM_001163817.1:c.1017C>G	NP_001157289.1:p.Gly339=
NM_001360.2:c.1017C>G , LRG_340t1:c.1017C>G	NP_001351.2:p.Gly339=
XM_011544777.1:c.1151C>G	XP_011543079.1:p.Ala384Gly
XM_011544777.2:c.1151C>G	XP_011543079.1:p.Ala384Gly
NM_001163817.2:c.1017C>G	NP_001157289.1:p.Gly339=
NM_001360.3:c.1017C>G MANE Select	NP_001351.2:p.Gly339=