Canonical Allele Identifier: CA275430

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 198773
• ClinVar RCV Id: RCV000180217 ; RCV000724095 ; RCV002252024 ; RCV002372105 ; RCV003907631
• dbSNP Id: rs142808899
• ExAC: 11:71148914 C / T
• gnomAD v2: 11-71148914-C-T
• gnomAD v3: 11-71437868-C-T
• gnomAD v4: 11-71437868-C-T
• MyVariant Identifiers: chr11:g.71148914C>T (hg19) ; chr11:g.71437868C>T (hg38)
• PubMed: PMID:16044199 ; PMID:20052364 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437868C>T , CM000673.2:g.71437868C>T	GRCh38
NC_000011.9:g.71148914C>T , CM000673.1:g.71148914C>T	GRCh37
NC_000011.8:g.70826562C>T	NCBI36
NG_012655.2:g.15564G>A , LRG_340:g.15564G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.907G>A	ENSP00000435707.3:p.Gly303Arg
ENST00000526780.6:c.907G>A	ENSP00000435668.2:p.Gly303Arg
ENST00000527316.6:c.733G>A	ENSP00000435047.2:p.Gly245Arg
ENST00000682708.1:c.958G>A	ENSP00000506866.1:p.Gly320Arg
ENST00000682880.1:c.907G>A	ENSP00000507520.1:p.Gly303Arg
ENST00000683287.1:c.943G>A	ENSP00000507607.1:p.Gly315Arg
ENST00000683714.1:c.907G>A	ENSP00000508207.1:p.Gly303Arg
ENST00000684396.1:n.947G>A
ENST00000685320.1:c.322G>A	ENSP00000509319.1:p.Gly108Arg
ENST00000690257.1:c.811G>A	ENSP00000510750.1:p.Gly271Arg
ENST00000355527.8:c.907G>A MANE Select	ENSP00000347717.4:p.Gly303Arg
ENST00000355527.7:c.907G>A	ENSP00000347717.3:p.Gly303Arg
ENST00000407721.6:c.907G>A	ENSP00000384739.2:p.Gly303Arg
ENST00000525137.1:c.274G>A	ENSP00000435956.1:p.Gly92Arg
ENST00000533800.5:c.157G>A	ENSP00000435011.1:p.Gly53Arg
ENST00000534795.5:c.263G>A
NM_001163817.1:c.907G>A	NP_001157289.1:p.Gly303Arg
NM_001360.2:c.907G>A , LRG_340t1:c.907G>A	NP_001351.2:p.Gly303Arg
XM_011544777.1:c.907G>A	XP_011543079.1:p.Gly303Arg
XM_011544777.2:c.907G>A	XP_011543079.1:p.Gly303Arg
NM_001163817.2:c.907G>A	NP_001157289.1:p.Gly303Arg
NM_001360.3:c.907G>A MANE Select	NP_001351.2:p.Gly303Arg