Canonical Allele Identifier: CA6162412

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 500764
• ClinVar RCV Id: RCV000593358 ; RCV000674146 ; RCV001267309
• dbSNP Id: rs565893436
• ExAC: 11:71148959 C / T
• gnomAD v2: 11-71148959-C-T
• gnomAD v3: 11-71437913-C-T
• gnomAD v4: 11-71437913-C-T
• COSMIC: COSM3452902 ; COSM3452903
• MyVariant Identifiers: chr11:g.71148959C>T (hg19) ; chr11:g.71437913C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437913C>T , CM000673.2:g.71437913C>T	GRCh38
NC_000011.9:g.71148959C>T , CM000673.1:g.71148959C>T	GRCh37
NC_000011.8:g.70826607C>T	NCBI36
NG_012655.2:g.15519G>A , LRG_340:g.15519G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.862G>A	ENSP00000435707.3:p.Glu288Lys
ENST00000526780.6:c.862G>A	ENSP00000435668.2:p.Glu288Lys
ENST00000527316.6:c.688G>A	ENSP00000435047.2:p.Glu230Lys
ENST00000682708.1:c.913G>A	ENSP00000506866.1:p.Glu305Lys
ENST00000682880.1:c.862G>A	ENSP00000507520.1:p.Glu288Lys
ENST00000683287.1:c.898G>A	ENSP00000507607.1:p.Glu300Lys
ENST00000683714.1:c.862G>A	ENSP00000508207.1:p.Glu288Lys
ENST00000684396.1:n.902G>A
ENST00000685320.1:c.277G>A	ENSP00000509319.1:p.Glu93Lys
ENST00000690257.1:c.766G>A	ENSP00000510750.1:p.Glu256Lys
ENST00000355527.8:c.862G>A MANE Select	ENSP00000347717.4:p.Glu288Lys
ENST00000355527.7:c.862G>A	ENSP00000347717.3:p.Glu288Lys
ENST00000407721.6:c.862G>A	ENSP00000384739.2:p.Glu288Lys
ENST00000525137.1:c.229G>A	ENSP00000435956.1:p.Glu77Lys
ENST00000527316.5:c.766G>A	ENSP00000435047.1:p.Glu256Lys
ENST00000533800.5:c.112G>A	ENSP00000435011.1:p.Glu38Lys
ENST00000534795.5:c.218G>A
NM_001163817.1:c.862G>A	NP_001157289.1:p.Glu288Lys
NM_001360.2:c.862G>A , LRG_340t1:c.862G>A	NP_001351.2:p.Glu288Lys
XM_011544777.1:c.862G>A	XP_011543079.1:p.Glu288Lys
XM_011544777.2:c.862G>A	XP_011543079.1:p.Glu288Lys
NM_001163817.2:c.862G>A	NP_001157289.1:p.Glu288Lys
NM_001360.3:c.862G>A MANE Select	NP_001351.2:p.Glu288Lys