Canonical Allele Identifier: CA259777

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 30278
• ClinVar RCV Id: RCV000023212
• dbSNP Id: rs786200926
• gnomAD v3: 11-71442260-T-A
• gnomAD v4: 11-71442260-T-A
• MyVariant Identifiers: chr11:g.71153306T>A (hg19) ; chr11:g.71442260T>A (hg38)
• PubMed: PMID:20635399

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71442260T>A , CM000673.2:g.71442260T>A	GRCh38
NC_000011.9:g.71153306T>A , CM000673.1:g.71153306T>A	GRCh37
NC_000011.8:g.70830954T>A	NCBI36
NG_012655.2:g.11172A>T , LRG_340:g.11172A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.412+3A>T	ENSP00000435707.3:n.412+3A>T
ENST00000526780.6:c.412+3A>T	ENSP00000435668.2:n.412+3A>T
ENST00000527316.6:c.238+3A>T	ENSP00000435047.2:n.238+3A>T
ENST00000682708.1:c.412+3A>T	ENSP00000506866.1:n.412+3A>T
ENST00000682880.1:c.412+3A>T	ENSP00000507520.1:n.412+3A>T
ENST00000683287.1:c.448+3A>T	ENSP00000507607.1:n.448+3A>T
ENST00000683714.1:c.412+3A>T	ENSP00000508207.1:n.412+3A>T
ENST00000683874.1:n.689+3A>T
ENST00000685320.1:c.-174+3A>T	ENSP00000509319.1:n.-174+3A>T
ENST00000690257.1:c.316+3A>T	ENSP00000510750.1:n.316+3A>T
ENST00000355527.8:c.412+3A>T MANE Select	ENSP00000347717.4:n.412+3A>T
ENST00000355527.7:c.412+3A>T	ENSP00000347717.3:n.412+3A>T
ENST00000407721.6:c.412+3A>T	ENSP00000384739.2:n.412+3A>T
ENST00000526780.5:c.412+3A>T	ENSP00000435668.1:n.412+3A>T
ENST00000527316.5:c.316+3A>T	ENSP00000435047.1:n.316+3A>T
NM_001163817.1:c.412+3A>T	NP_001157289.1:n.412+3A>T
NM_001360.2:c.412+3A>T , LRG_340t1:c.412+3A>T	NP_001351.2:n.412+3A>T
XM_011544777.1:c.412+3A>T	XP_011543079.1:n.412+3A>T
XM_011544777.2:c.412+3A>T	XP_011543079.1:n.412+3A>T
NM_001163817.2:c.412+3A>T	NP_001157289.1:n.412+3A>T
NM_001360.3:c.412+3A>T MANE Select	NP_001351.2:n.412+3A>T