Canonical Allele Identifier: CA381703160

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 2854167
• ClinVar RCV Id: RCV003617491
• MyVariant Identifiers: chr11:g.71148983A>C (hg19) ; chr11:g.71437937A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437937A>C , CM000673.2:g.71437937A>C	GRCh38
NC_000011.9:g.71148983A>C , CM000673.1:g.71148983A>C	GRCh37
NC_000011.8:g.70826631A>C	NCBI36
NG_012655.2:g.15495T>G , LRG_340:g.15495T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.838T>G	ENSP00000435707.3:p.Tyr280Asp
ENST00000526780.6:c.838T>G	ENSP00000435668.2:p.Tyr280Asp
ENST00000527316.6:c.664T>G	ENSP00000435047.2:p.Tyr222Asp
ENST00000682708.1:c.889T>G	ENSP00000506866.1:p.Tyr297Asp
ENST00000682880.1:c.838T>G	ENSP00000507520.1:p.Tyr280Asp
ENST00000683287.1:c.874T>G	ENSP00000507607.1:p.Tyr292Asp
ENST00000683714.1:c.838T>G	ENSP00000508207.1:p.Tyr280Asp
ENST00000684396.1:n.878T>G
ENST00000685320.1:c.253T>G	ENSP00000509319.1:p.Tyr85Asp
ENST00000690257.1:c.742T>G	ENSP00000510750.1:p.Tyr248Asp
ENST00000355527.8:c.838T>G MANE Select	ENSP00000347717.4:p.Tyr280Asp
ENST00000355527.7:c.838T>G	ENSP00000347717.3:p.Tyr280Asp
ENST00000407721.6:c.838T>G	ENSP00000384739.2:p.Tyr280Asp
ENST00000525137.1:c.205T>G	ENSP00000435956.1:p.Tyr69Asp
ENST00000527316.5:c.742T>G	ENSP00000435047.1:p.Tyr248Asp
ENST00000533800.5:c.88T>G	ENSP00000435011.1:p.Tyr30Asp
ENST00000534795.5:c.194T>G
NM_001163817.1:c.838T>G	NP_001157289.1:p.Tyr280Asp
NM_001360.2:c.838T>G , LRG_340t1:c.838T>G	NP_001351.2:p.Tyr280Asp
XM_011544777.1:c.838T>G	XP_011543079.1:p.Tyr280Asp
XM_011544777.2:c.838T>G	XP_011543079.1:p.Tyr280Asp
NM_001163817.2:c.838T>G	NP_001157289.1:p.Tyr280Asp
NM_001360.3:c.838T>G MANE Select	NP_001351.2:p.Tyr280Asp