Canonical Allele Identifier: CA381702919

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71437834-A-C
• MyVariant Identifiers: chr11:g.71148880A>C (hg19) ; chr11:g.71437834A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437834A>C , CM000673.2:g.71437834A>C	GRCh38
NC_000011.9:g.71148880A>C , CM000673.1:g.71148880A>C	GRCh37
NC_000011.8:g.70826528A>C	NCBI36
NG_012655.2:g.15598T>G , LRG_340:g.15598T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.941T>G	ENSP00000435707.3:p.Leu314Arg
ENST00000526780.6:c.941T>G	ENSP00000435668.2:p.Leu314Arg
ENST00000527316.6:c.767T>G	ENSP00000435047.2:p.Leu256Arg
ENST00000682708.1:c.992T>G	ENSP00000506866.1:p.Leu331Arg
ENST00000682880.1:c.941T>G	ENSP00000507520.1:p.Leu314Arg
ENST00000683287.1:c.977T>G	ENSP00000507607.1:p.Leu326Arg
ENST00000683714.1:c.941T>G	ENSP00000508207.1:p.Leu314Arg
ENST00000684396.1:n.981T>G
ENST00000685320.1:c.356T>G	ENSP00000509319.1:p.Leu119Arg
ENST00000690257.1:c.845T>G	ENSP00000510750.1:p.Leu282Arg
ENST00000355527.8:c.941T>G MANE Select	ENSP00000347717.4:p.Leu314Arg
ENST00000355527.7:c.941T>G	ENSP00000347717.3:p.Leu314Arg
ENST00000407721.6:c.941T>G	ENSP00000384739.2:p.Leu314Arg
ENST00000525137.1:c.308T>G	ENSP00000435956.1:p.Leu103Arg
ENST00000533800.5:c.191T>G	ENSP00000435011.1:p.Leu64Arg
ENST00000534795.5:c.297T>G
NM_001163817.1:c.941T>G	NP_001157289.1:p.Leu314Arg
NM_001360.2:c.941T>G , LRG_340t1:c.941T>G	NP_001351.2:p.Leu314Arg
XM_011544777.1:c.941T>G	XP_011543079.1:p.Leu314Arg
XM_011544777.2:c.941T>G	XP_011543079.1:p.Leu314Arg
NM_001163817.2:c.941T>G	NP_001157289.1:p.Leu314Arg
NM_001360.3:c.941T>G MANE Select	NP_001351.2:p.Leu314Arg