Canonical Allele Identifier: CA381702925

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 839516
• ClinVar RCV Id: RCV001041290
• dbSNP Id: rs1555145862
• gnomAD v4: 11-71437836-C-G
• MyVariant Identifiers: chr11:g.71148882C>G (hg19) ; chr11:g.71437836C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437836C>G , CM000673.2:g.71437836C>G	GRCh38
NC_000011.9:g.71148882C>G , CM000673.1:g.71148882C>G	GRCh37
NC_000011.8:g.70826530C>G	NCBI36
NG_012655.2:g.15596G>C , LRG_340:g.15596G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.939G>C	ENSP00000435707.3:p.Trp313Cys
ENST00000526780.6:c.939G>C	ENSP00000435668.2:p.Trp313Cys
ENST00000527316.6:c.765G>C	ENSP00000435047.2:p.Trp255Cys
ENST00000682708.1:c.990G>C	ENSP00000506866.1:p.Trp330Cys
ENST00000682880.1:c.939G>C	ENSP00000507520.1:p.Trp313Cys
ENST00000683287.1:c.975G>C	ENSP00000507607.1:p.Trp325Cys
ENST00000683714.1:c.939G>C	ENSP00000508207.1:p.Trp313Cys
ENST00000684396.1:n.979G>C
ENST00000685320.1:c.354G>C	ENSP00000509319.1:p.Trp118Cys
ENST00000690257.1:c.843G>C	ENSP00000510750.1:p.Trp281Cys
ENST00000355527.8:c.939G>C MANE Select	ENSP00000347717.4:p.Trp313Cys
ENST00000355527.7:c.939G>C	ENSP00000347717.3:p.Trp313Cys
ENST00000407721.6:c.939G>C	ENSP00000384739.2:p.Trp313Cys
ENST00000525137.1:c.306G>C	ENSP00000435956.1:p.Trp102Cys
ENST00000533800.5:c.189G>C	ENSP00000435011.1:p.Trp63Cys
ENST00000534795.5:c.295G>C
NM_001163817.1:c.939G>C	NP_001157289.1:p.Trp313Cys
NM_001360.2:c.939G>C , LRG_340t1:c.939G>C	NP_001351.2:p.Trp313Cys
XM_011544777.1:c.939G>C	XP_011543079.1:p.Trp313Cys
XM_011544777.2:c.939G>C	XP_011543079.1:p.Trp313Cys
NM_001163817.2:c.939G>C	NP_001157289.1:p.Trp313Cys
NM_001360.3:c.939G>C MANE Select	NP_001351.2:p.Trp313Cys