Canonical Allele Identifier: CA253949

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 6790
• ClinVar RCV Id: RCV000007192 ; RCV003407291
• dbSNP Id: rs121909766
• MyVariant Identifiers: chr11:g.71148982T>C (hg19) ; chr11:g.71437936T>C (hg38)
• PubMed: PMID:11857552

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437936T>C , CM000673.2:g.71437936T>C	GRCh38
NC_000011.9:g.71148982T>C , CM000673.1:g.71148982T>C	GRCh37
NC_000011.8:g.70826630T>C	NCBI36
NG_012655.2:g.15496A>G , LRG_340:g.15496A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.839A>G	ENSP00000435707.3:p.Tyr280Cys
ENST00000526780.6:c.839A>G	ENSP00000435668.2:p.Tyr280Cys
ENST00000527316.6:c.665A>G	ENSP00000435047.2:p.Tyr222Cys
ENST00000682708.1:c.890A>G	ENSP00000506866.1:p.Tyr297Cys
ENST00000682880.1:c.839A>G	ENSP00000507520.1:p.Tyr280Cys
ENST00000683287.1:c.875A>G	ENSP00000507607.1:p.Tyr292Cys
ENST00000683714.1:c.839A>G	ENSP00000508207.1:p.Tyr280Cys
ENST00000684396.1:n.879A>G
ENST00000685320.1:c.254A>G	ENSP00000509319.1:p.Tyr85Cys
ENST00000690257.1:c.743A>G	ENSP00000510750.1:p.Tyr248Cys
ENST00000355527.8:c.839A>G MANE Select	ENSP00000347717.4:p.Tyr280Cys
ENST00000355527.7:c.839A>G	ENSP00000347717.3:p.Tyr280Cys
ENST00000407721.6:c.839A>G	ENSP00000384739.2:p.Tyr280Cys
ENST00000525137.1:c.206A>G	ENSP00000435956.1:p.Tyr69Cys
ENST00000527316.5:c.743A>G	ENSP00000435047.1:p.Tyr248Cys
ENST00000533800.5:c.89A>G	ENSP00000435011.1:p.Tyr30Cys
ENST00000534795.5:c.195A>G
NM_001163817.1:c.839A>G	NP_001157289.1:p.Tyr280Cys
NM_001360.2:c.839A>G , LRG_340t1:c.839A>G	NP_001351.2:p.Tyr280Cys
XM_011544777.1:c.839A>G	XP_011543079.1:p.Tyr280Cys
XM_011544777.2:c.839A>G	XP_011543079.1:p.Tyr280Cys
NM_001163817.2:c.839A>G	NP_001157289.1:p.Tyr280Cys
NM_001360.3:c.839A>G MANE Select	NP_001351.2:p.Tyr280Cys