Canonical Allele Identifier: CA381702889

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 558199
• ClinVar RCV Id: RCV000674430
• dbSNP Id: rs1362583959
• gnomAD v2: 11-71148866-T-C
• MyVariant Identifiers: chr11:g.71148866T>C (hg19) ; chr11:g.71437820T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437820T>C , CM000673.2:g.71437820T>C	GRCh38
NC_000011.9:g.71148866T>C , CM000673.1:g.71148866T>C	GRCh37
NC_000011.8:g.70826514T>C	NCBI36
NG_012655.2:g.15612A>G , LRG_340:g.15612A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.955A>G	ENSP00000435707.3:p.Thr319Ala
ENST00000526780.6:c.955A>G	ENSP00000435668.2:p.Thr319Ala
ENST00000527316.6:c.781A>G	ENSP00000435047.2:p.Thr261Ala
ENST00000682708.1:c.1006A>G	ENSP00000506866.1:p.Thr336Ala
ENST00000682880.1:c.955A>G	ENSP00000507520.1:p.Thr319Ala
ENST00000683287.1:c.991A>G	ENSP00000507607.1:p.Thr331Ala
ENST00000683714.1:c.955A>G	ENSP00000508207.1:p.Thr319Ala
ENST00000684396.1:n.995A>G
ENST00000685320.1:c.370A>G	ENSP00000509319.1:p.Thr124Ala
ENST00000690257.1:c.859A>G	ENSP00000510750.1:p.Thr287Ala
ENST00000355527.8:c.955A>G MANE Select	ENSP00000347717.4:p.Thr319Ala
ENST00000355527.7:c.955A>G	ENSP00000347717.3:p.Thr319Ala
ENST00000407721.6:c.955A>G	ENSP00000384739.2:p.Thr319Ala
ENST00000525137.1:c.322A>G	ENSP00000435956.1:p.Thr108Ala
ENST00000533800.5:c.205A>G	ENSP00000435011.1:p.Thr69Ala
ENST00000534795.5:c.311A>G
NM_001163817.1:c.955A>G	NP_001157289.1:p.Thr319Ala
NM_001360.2:c.955A>G , LRG_340t1:c.955A>G	NP_001351.2:p.Thr319Ala
XM_011544777.1:c.955A>G	XP_011543079.1:p.Thr319Ala
XM_011544777.2:c.955A>G	XP_011543079.1:p.Thr319Ala
NM_001163817.2:c.955A>G	NP_001157289.1:p.Thr319Ala
NM_001360.3:c.955A>G MANE Select	NP_001351.2:p.Thr319Ala