Canonical Allele Identifier: CA381700551

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146467C>A (hg19) ; chr11:g.71435421C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435421C>A , CM000673.2:g.71435421C>A	GRCh38
NC_000011.9:g.71146467C>A , CM000673.1:g.71146467C>A	GRCh37
NC_000011.8:g.70824115C>A	NCBI36
NG_012655.2:g.18011G>T , LRG_340:g.18011G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1382G>T	ENSP00000435707.3:p.Arg461Leu
ENST00000526780.6:c.1382G>T	ENSP00000435668.2:p.Arg461Leu
ENST00000527316.6:c.1208G>T	ENSP00000435047.2:p.Arg403Leu
ENST00000682708.1:c.1433G>T	ENSP00000506866.1:p.Arg478Leu
ENST00000683287.1:c.1418G>T	ENSP00000507607.1:p.Arg473Leu
ENST00000683714.1:c.*145G>T	ENSP00000508207.1:n.*145G>T
ENST00000684396.1:n.1422G>T
ENST00000685320.1:c.797G>T	ENSP00000509319.1:p.Arg266Leu
ENST00000690257.1:c.1286G>T	ENSP00000510750.1:p.Arg429Leu
ENST00000355527.8:c.1382G>T MANE Select	ENSP00000347717.4:p.Arg461Leu
ENST00000355527.7:c.1382G>T	ENSP00000347717.3:p.Arg461Leu
ENST00000407721.6:c.1382G>T	ENSP00000384739.2:p.Arg461Leu
ENST00000525137.1:c.883G>T	ENSP00000435956.1:n.883G>T
ENST00000533800.5:c.611+21G>T	ENSP00000435011.1:n.611+21G>T
ENST00000534795.5:c.319+2391G>T
NM_001163817.1:c.1382G>T	NP_001157289.1:p.Arg461Leu
NM_001360.2:c.1382G>T , LRG_340t1:c.1382G>T	NP_001351.2:p.Arg461Leu
XM_011544777.1:c.*145G>T	XP_011543079.1:n.*145G>T
XM_011544777.2:c.*145G>T	XP_011543079.1:n.*145G>T
NM_001163817.2:c.1382G>T	NP_001157289.1:p.Arg461Leu
NM_001360.3:c.1382G>T MANE Select	NP_001351.2:p.Arg461Leu