Canonical Allele Identifier: CA118516

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 6794
• ClinVar RCV Id: RCV000169384 ; RCV000224026 ; RCV001267308 ; RCV003390651
• dbSNP Id: rs104886033
• ExAC: 11:71155998 T / C
• gnomAD v2: 11-71155998-T-C
• gnomAD v3: 11-71444952-T-C
• gnomAD v4: 11-71444952-T-C
• MyVariant Identifiers: chr11:g.71155998T>C (hg19) ; chr11:g.71155998_71156001delinsCTGG (hg19) ; chr11:g.71444952T>C (hg38)
• PubMed: PMID:9634533 ; PMID:15776424 ; PMID:15952211 ; PMID:16983147 ; PMID:21990131 ; PMID:22391996 ; PMID:24500076

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444952T>C , CM000673.2:g.71444952T>C	GRCh38
NC_000011.9:g.71155998T>C , CM000673.1:g.71155998T>C	GRCh37
NC_000011.8:g.70833646T>C	NCBI36
NG_012655.2:g.8480A>G , LRG_340:g.8480A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1A>G	ENSP00000435707.3:p.Met1Val
ENST00000526780.6:c.1A>G	ENSP00000435668.2:p.Met1Val
ENST00000527316.6:c.-245A>G	ENSP00000435047.2:n.-245A>G
ENST00000529990.6:c.-212A>G	ENSP00000435058.2:n.-212A>G
ENST00000682708.1:c.1A>G	ENSP00000506866.1:p.Met1Val
ENST00000682880.1:c.1A>G	ENSP00000507520.1:p.Met1Val
ENST00000683287.1:c.1A>G	ENSP00000507607.1:p.Met1Val
ENST00000683714.1:c.1A>G	ENSP00000508207.1:p.Met1Val
ENST00000683874.1:n.278A>G
ENST00000685320.1:c.-333-891A>G	ENSP00000509319.1:n.-333-891A>G
ENST00000690257.1:c.1A>G	ENSP00000510750.1:p.Met1Val
ENST00000355527.8:c.1A>G MANE Select	ENSP00000347717.4:p.Met1Val
ENST00000355527.7:c.1A>G	ENSP00000347717.3:p.Met1Val
ENST00000407721.6:c.1A>G	ENSP00000384739.2:p.Met1Val
ENST00000525346.5:c.1A>G	ENSP00000435707.2:p.Met1Val
ENST00000526780.5:c.1A>G	ENSP00000435668.1:p.Met1Val
ENST00000527316.5:c.1A>G	ENSP00000435047.1:p.Met1Val
ENST00000527452.1:c.1A>G	ENSP00000436007.1:p.Met1Val
ENST00000529990.5:c.-98A>G	ENSP00000435058.1:n.-98A>G
ENST00000531364.5:c.1A>G	ENSP00000432589.1:p.Met1Val
NM_001163817.1:c.1A>G	NP_001157289.1:p.Met1Val
NM_001360.2:c.1A>G , LRG_340t1:c.1A>G	NP_001351.2:p.Met1Val
XM_011544777.1:c.1A>G	XP_011543079.1:p.Met1Val
XM_011544777.2:c.1A>G	XP_011543079.1:p.Met1Val
NM_001163817.2:c.1A>G	NP_001157289.1:p.Met1Val
NM_001360.3:c.1A>G MANE Select	NP_001351.2:p.Met1Val