Canonical Allele Identifier: CA6162263

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 557359
• ClinVar RCV Id: RCV000673491
• dbSNP Id: rs535561852
• ExAC: 11:71146522 G / A
• gnomAD v2: 11-71146522-G-A
• gnomAD v3: 11-71435476-G-A
• gnomAD v4: 11-71435476-G-A
• COSMIC: COSM5839519 ; COSM5839520
• MyVariant Identifiers: chr11:g.71146522G>A (hg19) ; chr11:g.71435476G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435476G>A , CM000673.2:g.71435476G>A	GRCh38
NC_000011.9:g.71146522G>A , CM000673.1:g.71146522G>A	GRCh37
NC_000011.8:g.70824170G>A	NCBI36
NG_012655.2:g.17956C>T , LRG_340:g.17956C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1327C>T	ENSP00000435707.3:p.Arg443Cys
ENST00000526780.6:c.1327C>T	ENSP00000435668.2:p.Arg443Cys
ENST00000527316.6:c.1153C>T	ENSP00000435047.2:p.Arg385Cys
ENST00000682708.1:c.1378C>T	ENSP00000506866.1:p.Arg460Cys
ENST00000683287.1:c.1363C>T	ENSP00000507607.1:p.Arg455Cys
ENST00000683714.1:c.*90C>T	ENSP00000508207.1:n.*90C>T
ENST00000684396.1:n.1367C>T
ENST00000685320.1:c.742C>T	ENSP00000509319.1:p.Arg248Cys
ENST00000690257.1:c.1231C>T	ENSP00000510750.1:p.Arg411Cys
ENST00000355527.8:c.1327C>T MANE Select	ENSP00000347717.4:p.Arg443Cys
ENST00000355527.7:c.1327C>T	ENSP00000347717.3:p.Arg443Cys
ENST00000407721.6:c.1327C>T	ENSP00000384739.2:p.Arg443Cys
ENST00000525137.1:c.828C>T	ENSP00000435956.1:n.828C>T
ENST00000533800.5:c.577C>T	ENSP00000435011.1:p.Arg193Cys
ENST00000534795.5:c.319+2336C>T
NM_001163817.1:c.1327C>T	NP_001157289.1:p.Arg443Cys
NM_001360.2:c.1327C>T , LRG_340t1:c.1327C>T	NP_001351.2:p.Arg443Cys
XM_011544777.1:c.*90C>T	XP_011543079.1:n.*90C>T
XM_011544777.2:c.*90C>T	XP_011543079.1:n.*90C>T
NM_001163817.2:c.1327C>T	NP_001157289.1:p.Arg443Cys
NM_001360.3:c.1327C>T MANE Select	NP_001351.2:p.Arg443Cys