Canonical Allele Identifier: CA6162447

Gene: DHCR7

Linked Data

• dbSNP Id: rs770713196
• ExAC: 11:71149928 C / T
• gnomAD v2: 11-71149928-C-T
• gnomAD v3: 11-71438882-C-T
• gnomAD v4: 11-71438882-C-T
• MyVariant Identifiers: chr11:g.71149928C>T (hg19) ; chr11:g.71438882C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71438882C>T , CM000673.2:g.71438882C>T	GRCh38
NC_000011.9:g.71149928C>T , CM000673.1:g.71149928C>T	GRCh37
NC_000011.8:g.70827576C>T	NCBI36
NG_012655.2:g.14550G>A , LRG_340:g.14550G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.828G>A	ENSP00000435707.3:p.Leu276=
ENST00000526780.6:c.828G>A	ENSP00000435668.2:p.Leu276=
ENST00000527316.6:c.654G>A	ENSP00000435047.2:p.Leu218=
ENST00000682708.1:c.879G>A	ENSP00000506866.1:p.Leu293=
ENST00000682880.1:c.828G>A	ENSP00000507520.1:p.Leu276=
ENST00000683287.1:c.864G>A	ENSP00000507607.1:p.Leu288=
ENST00000683714.1:c.828G>A	ENSP00000508207.1:p.Leu276=
ENST00000684396.1:n.868G>A
ENST00000685320.1:c.243G>A	ENSP00000509319.1:p.Leu81=
ENST00000690257.1:c.732G>A	ENSP00000510750.1:p.Leu244=
ENST00000355527.8:c.828G>A MANE Select	ENSP00000347717.4:p.Leu276=
ENST00000355527.7:c.828G>A	ENSP00000347717.3:p.Leu276=
ENST00000407721.6:c.828G>A	ENSP00000384739.2:p.Leu276=
ENST00000525137.1:c.195G>A	ENSP00000435956.1:p.Leu65=
ENST00000527316.5:c.732G>A	ENSP00000435047.1:p.Leu244=
ENST00000533800.5:c.78G>A	ENSP00000435011.1:p.Leu26=
ENST00000534701.1:n.323G>A
ENST00000534795.5:c.184G>A
NM_001163817.1:c.828G>A	NP_001157289.1:p.Leu276=
NM_001360.2:c.828G>A , LRG_340t1:c.828G>A	NP_001351.2:p.Leu276=
XM_011544777.1:c.828G>A	XP_011543079.1:p.Leu276=
XM_011544777.2:c.828G>A	XP_011543079.1:p.Leu276=
NM_001163817.2:c.828G>A	NP_001157289.1:p.Leu276=
NM_001360.3:c.828G>A MANE Select	NP_001351.2:p.Leu276=