Canonical Allele Identifier: CA475567384

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71148903C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437857C>A , CM000673.2:g.71437857C>A	GRCh38
NC_000011.9:g.71148903C>A , CM000673.1:g.71148903C>A	GRCh37
NC_000011.8:g.70826551C>A	NCBI36
NG_012655.2:g.15575G>T , LRG_340:g.15575G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.918G>T	ENSP00000435707.3:p.Leu306=
ENST00000526780.6:c.918G>T	ENSP00000435668.2:p.Leu306=
ENST00000527316.6:c.744G>T	ENSP00000435047.2:p.Leu248=
ENST00000682708.1:c.969G>T	ENSP00000506866.1:p.Leu323=
ENST00000682880.1:c.918G>T	ENSP00000507520.1:p.Leu306=
ENST00000683287.1:c.954G>T	ENSP00000507607.1:p.Leu318=
ENST00000683714.1:c.918G>T	ENSP00000508207.1:p.Leu306=
ENST00000684396.1:n.958G>T
ENST00000685320.1:c.333G>T	ENSP00000509319.1:p.Leu111=
ENST00000690257.1:c.822G>T	ENSP00000510750.1:p.Leu274=
ENST00000355527.8:c.918G>T MANE Select	ENSP00000347717.4:p.Leu306=
ENST00000355527.7:c.918G>T	ENSP00000347717.3:p.Leu306=
ENST00000407721.6:c.918G>T	ENSP00000384739.2:p.Leu306=
ENST00000525137.1:c.285G>T	ENSP00000435956.1:p.Leu95=
ENST00000533800.5:c.168G>T	ENSP00000435011.1:p.Leu56=
ENST00000534795.5:c.274G>T
NM_001163817.1:c.918G>T	NP_001157289.1:p.Leu306=
NM_001360.2:c.918G>T , LRG_340t1:c.918G>T	NP_001351.2:p.Leu306=
XM_011544777.1:c.918G>T	XP_011543079.1:p.Leu306=
XM_011544777.2:c.918G>T	XP_011543079.1:p.Leu306=
NM_001163817.2:c.918G>T	NP_001157289.1:p.Leu306=
NM_001360.3:c.918G>T MANE Select	NP_001351.2:p.Leu306=