Canonical Allele Identifier: CA118513

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 6792
• ClinVar RCV Id: RCV000020435 ; RCV000790762
• dbSNP Id: rs80338864
• ExAC: 11:71146507 C / T
• gnomAD v2: 11-71146507-C-T
• gnomAD v3: 11-71435461-C-T
• gnomAD v4: 11-71435461-C-T
• COSMIC: COSM3452894 ; COSM3452895
• MyVariant Identifiers: chr11:g.71146507C>T (hg19) ; chr11:g.71435461C>T (hg38)
• PubMed: PMID:10602371 ; PMID:10677299 ; PMID:10814720 ; PMID:10995508 ; PMID:12070263 ; PMID:12949967 ; PMID:16181459 ; PMID:16207203 ; PMID:20301322 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435461C>T , CM000673.2:g.71435461C>T	GRCh38
NC_000011.9:g.71146507C>T , CM000673.1:g.71146507C>T	GRCh37
NC_000011.8:g.70824155C>T	NCBI36
NG_012655.2:g.17971G>A , LRG_340:g.17971G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1342G>A	ENSP00000435707.3:p.Glu448Lys
ENST00000526780.6:c.1342G>A	ENSP00000435668.2:p.Glu448Lys
ENST00000527316.6:c.1168G>A	ENSP00000435047.2:p.Glu390Lys
ENST00000682708.1:c.1393G>A	ENSP00000506866.1:p.Glu465Lys
ENST00000683287.1:c.1378G>A	ENSP00000507607.1:p.Glu460Lys
ENST00000683714.1:c.*105G>A	ENSP00000508207.1:n.*105G>A
ENST00000684396.1:n.1382G>A
ENST00000685320.1:c.757G>A	ENSP00000509319.1:p.Glu253Lys
ENST00000690257.1:c.1246G>A	ENSP00000510750.1:p.Glu416Lys
ENST00000355527.8:c.1342G>A MANE Select	ENSP00000347717.4:p.Glu448Lys
ENST00000355527.7:c.1342G>A	ENSP00000347717.3:p.Glu448Lys
ENST00000407721.6:c.1342G>A	ENSP00000384739.2:p.Glu448Lys
ENST00000525137.1:c.843G>A	ENSP00000435956.1:n.843G>A
ENST00000533800.5:c.592G>A	ENSP00000435011.1:p.Glu198Lys
ENST00000534795.5:c.319+2351G>A
NM_001163817.1:c.1342G>A	NP_001157289.1:p.Glu448Lys
NM_001360.2:c.1342G>A , LRG_340t1:c.1342G>A	NP_001351.2:p.Glu448Lys
XM_011544777.1:c.*105G>A	XP_011543079.1:n.*105G>A
XM_011544777.2:c.*105G>A	XP_011543079.1:n.*105G>A
NM_001163817.2:c.1342G>A	NP_001157289.1:p.Glu448Lys
NM_001360.3:c.1342G>A MANE Select	NP_001351.2:p.Glu448Lys