Canonical Allele Identifier: CA6162258

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 431994
• ClinVar RCV Id: RCV000498273 ; RCV000576656 ; RCV002311810
• dbSNP Id: rs751604696
• ExAC: 11:71146512 C / T
• gnomAD v2: 11-71146512-C-T
• gnomAD v3: 11-71435466-C-T
• gnomAD v4: 11-71435466-C-T
• MyVariant Identifiers: chr11:g.71146512C>T (hg19) ; chr11:g.71435466C>T (hg38)
• PubMed: PMID:10677299 ; PMID:10896306 ; PMID:12270273 ; PMID:15464432 ; PMID:15521979 ; PMID:16983147 ; PMID:24500076

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435466C>T , CM000673.2:g.71435466C>T	GRCh38
NC_000011.9:g.71146512C>T , CM000673.1:g.71146512C>T	GRCh37
NC_000011.8:g.70824160C>T	NCBI36
NG_012655.2:g.17966G>A , LRG_340:g.17966G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1337G>A	ENSP00000435707.3:p.Arg446Gln
ENST00000526780.6:c.1337G>A	ENSP00000435668.2:p.Arg446Gln
ENST00000527316.6:c.1163G>A	ENSP00000435047.2:p.Arg388Gln
ENST00000682708.1:c.1388G>A	ENSP00000506866.1:p.Arg463Gln
ENST00000683287.1:c.1373G>A	ENSP00000507607.1:p.Arg458Gln
ENST00000683714.1:c.*100G>A	ENSP00000508207.1:n.*100G>A
ENST00000684396.1:n.1377G>A
ENST00000685320.1:c.752G>A	ENSP00000509319.1:p.Arg251Gln
ENST00000690257.1:c.1241G>A	ENSP00000510750.1:p.Arg414Gln
ENST00000355527.8:c.1337G>A MANE Select	ENSP00000347717.4:p.Arg446Gln
ENST00000355527.7:c.1337G>A	ENSP00000347717.3:p.Arg446Gln
ENST00000407721.6:c.1337G>A	ENSP00000384739.2:p.Arg446Gln
ENST00000525137.1:c.838G>A	ENSP00000435956.1:n.838G>A
ENST00000533800.5:c.587G>A	ENSP00000435011.1:p.Arg196Gln
ENST00000534795.5:c.319+2346G>A
NM_001163817.1:c.1337G>A	NP_001157289.1:p.Arg446Gln
NM_001360.2:c.1337G>A , LRG_340t1:c.1337G>A	NP_001351.2:p.Arg446Gln
XM_011544777.1:c.*100G>A	XP_011543079.1:n.*100G>A
XM_011544777.2:c.*100G>A	XP_011543079.1:n.*100G>A
NM_001163817.2:c.1337G>A	NP_001157289.1:p.Arg446Gln
NM_001360.3:c.1337G>A MANE Select	NP_001351.2:p.Arg446Gln