Canonical Allele Identifier: CA381700677

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 2798881
• ClinVar RCV Id: RCV003618289
• MyVariant Identifiers: chr11:g.71146497C>A (hg19) ; chr11:g.71435451C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435451C>A , CM000673.2:g.71435451C>A	GRCh38
NC_000011.9:g.71146497C>A , CM000673.1:g.71146497C>A	GRCh37
NC_000011.8:g.70824145C>A	NCBI36
NG_012655.2:g.17981G>T , LRG_340:g.17981G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1352G>T	ENSP00000435707.3:p.Cys451Phe
ENST00000526780.6:c.1352G>T	ENSP00000435668.2:p.Cys451Phe
ENST00000527316.6:c.1178G>T	ENSP00000435047.2:p.Cys393Phe
ENST00000682708.1:c.1403G>T	ENSP00000506866.1:p.Cys468Phe
ENST00000683287.1:c.1388G>T	ENSP00000507607.1:p.Cys463Phe
ENST00000683714.1:c.*115G>T	ENSP00000508207.1:n.*115G>T
ENST00000684396.1:n.1392G>T
ENST00000685320.1:c.767G>T	ENSP00000509319.1:p.Cys256Phe
ENST00000690257.1:c.1256G>T	ENSP00000510750.1:p.Cys419Phe
ENST00000355527.8:c.1352G>T MANE Select	ENSP00000347717.4:p.Cys451Phe
ENST00000355527.7:c.1352G>T	ENSP00000347717.3:p.Cys451Phe
ENST00000407721.6:c.1352G>T	ENSP00000384739.2:p.Cys451Phe
ENST00000525137.1:c.853G>T	ENSP00000435956.1:n.853G>T
ENST00000533800.5:c.602G>T	ENSP00000435011.1:p.Cys201Phe
ENST00000534795.5:c.319+2361G>T
NM_001163817.1:c.1352G>T	NP_001157289.1:p.Cys451Phe
NM_001360.2:c.1352G>T , LRG_340t1:c.1352G>T	NP_001351.2:p.Cys451Phe
XM_011544777.1:c.*115G>T	XP_011543079.1:n.*115G>T
XM_011544777.2:c.*115G>T	XP_011543079.1:n.*115G>T
NM_001163817.2:c.1352G>T	NP_001157289.1:p.Cys451Phe
NM_001360.3:c.1352G>T MANE Select	NP_001351.2:p.Cys451Phe