Canonical Allele Identifier: CA118510

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 6791
• ClinVar RCV Id: RCV000169218 ; RCV001528227
• dbSNP Id: rs121909767
• gnomAD v2: 11-71155996-C-T
• gnomAD v3: 11-71444950-C-T
• gnomAD v4: 11-71444950-C-T
• MyVariant Identifiers: chr11:g.71155996C>T (hg19) ; chr11:g.71444950C>T (hg38)
• PubMed: PMID:9634533 ; PMID:11111101 ; PMID:11453964 ; PMID:11767235 ; PMID:12949967 ; PMID:15776424 ; PMID:15952211 ; PMID:18249054 ; PMID:23042628

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444950C>T , CM000673.2:g.71444950C>T	GRCh38
NC_000011.9:g.71155996C>T , CM000673.1:g.71155996C>T	GRCh37
NC_000011.8:g.70833644C>T	NCBI36
NG_012655.2:g.8482G>A , LRG_340:g.8482G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.3G>A	ENSP00000435707.3:p.Met1Ile
ENST00000526780.6:c.3G>A	ENSP00000435668.2:p.Met1Ile
ENST00000527316.6:c.-243G>A	ENSP00000435047.2:n.-243G>A
ENST00000529990.6:c.-210G>A	ENSP00000435058.2:n.-210G>A
ENST00000682708.1:c.3G>A	ENSP00000506866.1:p.Met1Ile
ENST00000682880.1:c.3G>A	ENSP00000507520.1:p.Met1Ile
ENST00000683287.1:c.3G>A	ENSP00000507607.1:p.Met1Ile
ENST00000683714.1:c.3G>A	ENSP00000508207.1:p.Met1Ile
ENST00000683874.1:n.280G>A
ENST00000685320.1:c.-333-889G>A	ENSP00000509319.1:n.-333-889G>A
ENST00000690257.1:c.3G>A	ENSP00000510750.1:p.Met1Ile
ENST00000355527.8:c.3G>A MANE Select	ENSP00000347717.4:p.Met1Ile
ENST00000355527.7:c.3G>A	ENSP00000347717.3:p.Met1Ile
ENST00000407721.6:c.3G>A	ENSP00000384739.2:p.Met1Ile
ENST00000525346.5:c.3G>A	ENSP00000435707.2:p.Met1Ile
ENST00000526780.5:c.3G>A	ENSP00000435668.1:p.Met1Ile
ENST00000527316.5:c.3G>A	ENSP00000435047.1:p.Met1Ile
ENST00000527452.1:c.3G>A	ENSP00000436007.1:p.Met1Ile
ENST00000529990.5:c.-96G>A	ENSP00000435058.1:n.-96G>A
ENST00000531364.5:c.3G>A	ENSP00000432589.1:p.Met1Ile
NM_001163817.1:c.3G>A	NP_001157289.1:p.Met1Ile
NM_001360.2:c.3G>A , LRG_340t1:c.3G>A	NP_001351.2:p.Met1Ile
XM_011544777.1:c.3G>A	XP_011543079.1:p.Met1Ile
XM_011544777.2:c.3G>A	XP_011543079.1:p.Met1Ile
NM_001163817.2:c.3G>A	NP_001157289.1:p.Met1Ile
NM_001360.3:c.3G>A MANE Select	NP_001351.2:p.Met1Ile