Canonical Allele Identifier: CA475569176

Gene: DHCR7

Linked Data

• dbSNP Id: rs1949317748
• gnomAD v4: 11-71438884-G-A
• MyVariant Identifiers: chr11:g.71149930G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71438884G>A , CM000673.2:g.71438884G>A	GRCh38
NC_000011.9:g.71149930G>A , CM000673.1:g.71149930G>A	GRCh37
NC_000011.8:g.70827578G>A	NCBI36
NG_012655.2:g.14548C>T , LRG_340:g.14548C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.826C>T	ENSP00000435707.3:p.Leu276=
ENST00000526780.6:c.826C>T	ENSP00000435668.2:p.Leu276=
ENST00000527316.6:c.652C>T	ENSP00000435047.2:p.Leu218=
ENST00000682708.1:c.877C>T	ENSP00000506866.1:p.Leu293=
ENST00000682880.1:c.826C>T	ENSP00000507520.1:p.Leu276=
ENST00000683287.1:c.862C>T	ENSP00000507607.1:p.Leu288=
ENST00000683714.1:c.826C>T	ENSP00000508207.1:p.Leu276=
ENST00000684396.1:n.866C>T
ENST00000685320.1:c.241C>T	ENSP00000509319.1:p.Leu81=
ENST00000690257.1:c.730C>T	ENSP00000510750.1:p.Leu244=
ENST00000355527.8:c.826C>T MANE Select	ENSP00000347717.4:p.Leu276=
ENST00000355527.7:c.826C>T	ENSP00000347717.3:p.Leu276=
ENST00000407721.6:c.826C>T	ENSP00000384739.2:p.Leu276=
ENST00000525137.1:c.193C>T	ENSP00000435956.1:p.Leu65=
ENST00000527316.5:c.730C>T	ENSP00000435047.1:p.Leu244=
ENST00000533800.5:c.76C>T	ENSP00000435011.1:p.Leu26=
ENST00000534701.1:n.321C>T
ENST00000534795.5:c.182C>T
NM_001163817.1:c.826C>T	NP_001157289.1:p.Leu276=
NM_001360.2:c.826C>T , LRG_340t1:c.826C>T	NP_001351.2:p.Leu276=
XM_011544777.1:c.826C>T	XP_011543079.1:p.Leu276=
XM_011544777.2:c.826C>T	XP_011543079.1:p.Leu276=
NM_001163817.2:c.826C>T	NP_001157289.1:p.Leu276=
NM_001360.3:c.826C>T MANE Select	NP_001351.2:p.Leu276=