Canonical Allele Identifier: CA341830

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 21276
• ClinVar RCV Id: RCV000020439 ; RCV001529736
• dbSNP Id: rs80338857
• ExAC: 11:71150031 C / T
• gnomAD v2: 11-71150031-C-T
• gnomAD v3: 11-71438985-C-T
• gnomAD v4: 11-71438985-C-T
• MyVariant Identifiers: chr11:g.71150031C>T (hg19) ; chr11:g.71438985C>T (hg38)
• PubMed: PMID:10995508 ; PMID:11427181 ; PMID:12818773 ; PMID:15776424 ; PMID:16044199 ; PMID:16207203 ; PMID:20301322 ; PMID:22975760 ; PMID:23293579

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71438985C>T , CM000673.2:g.71438985C>T	GRCh38
NC_000011.9:g.71150031C>T , CM000673.1:g.71150031C>T	GRCh37
NC_000011.8:g.70827679C>T	NCBI36
NG_012655.2:g.14447G>A , LRG_340:g.14447G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.725G>A	ENSP00000435707.3:p.Arg242His
ENST00000526780.6:c.725G>A	ENSP00000435668.2:p.Arg242His
ENST00000527316.6:c.551G>A	ENSP00000435047.2:p.Arg184His
ENST00000682708.1:c.776G>A	ENSP00000506866.1:p.Arg259His
ENST00000682880.1:c.725G>A	ENSP00000507520.1:p.Arg242His
ENST00000683287.1:c.761G>A	ENSP00000507607.1:p.Arg254His
ENST00000683714.1:c.725G>A	ENSP00000508207.1:p.Arg242His
ENST00000684396.1:n.765G>A
ENST00000685320.1:c.140G>A	ENSP00000509319.1:p.Arg47His
ENST00000690257.1:c.629G>A	ENSP00000510750.1:p.Arg210His
ENST00000355527.8:c.725G>A MANE Select	ENSP00000347717.4:p.Arg242His
ENST00000355527.7:c.725G>A	ENSP00000347717.3:p.Arg242His
ENST00000407721.6:c.725G>A	ENSP00000384739.2:p.Arg242His
ENST00000525137.1:c.92G>A	ENSP00000435956.1:p.Arg31His
ENST00000527316.5:c.629G>A	ENSP00000435047.1:p.Arg210His
ENST00000534701.1:n.220G>A
ENST00000534795.5:c.81G>A
NM_001163817.1:c.725G>A	NP_001157289.1:p.Arg242His
NM_001360.2:c.725G>A , LRG_340t1:c.725G>A	NP_001351.2:p.Arg242His
XM_011544777.1:c.725G>A	XP_011543079.1:p.Arg242His
XM_011544777.2:c.725G>A	XP_011543079.1:p.Arg242His
NM_001163817.2:c.725G>A	NP_001157289.1:p.Arg242His
NM_001360.3:c.725G>A MANE Select	NP_001351.2:p.Arg242His