Canonical Allele Identifier: CA1981487543

Gene: DHCR7

Linked Data

• dbSNP Id: rs1949287618

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71436865T>A , CM000673.2:g.71436865T>A	GRCh38
NC_000011.9:g.71147911T>A , CM000673.1:g.71147911T>A	GRCh37
NC_000011.8:g.70825559T>A	NCBI36
NG_012655.2:g.16567A>T , LRG_340:g.16567A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.963+947A>T	ENSP00000435707.3:n.963+947A>T
ENST00000526780.6:c.963+947A>T	ENSP00000435668.2:n.963+947A>T
ENST00000527316.6:c.789+947A>T	ENSP00000435047.2:n.789+947A>T
ENST00000682708.1:c.1014+947A>T	ENSP00000506866.1:n.1014+947A>T
ENST00000682880.1:c.*809A>T	ENSP00000507520.1:n.*809A>T
ENST00000683287.1:c.999+947A>T	ENSP00000507607.1:n.999+947A>T
ENST00000683714.1:c.971+939A>T	ENSP00000508207.1:n.971+939A>T
ENST00000684396.1:n.1003+947A>T
ENST00000685320.1:c.378+947A>T	ENSP00000509319.1:n.378+947A>T
ENST00000690257.1:c.867+947A>T	ENSP00000510750.1:n.867+947A>T
ENST00000355527.8:c.963+947A>T MANE Select	ENSP00000347717.4:n.963+947A>T
ENST00000355527.7:c.963+947A>T	ENSP00000347717.3:n.963+947A>T
ENST00000407721.6:c.963+947A>T	ENSP00000384739.2:n.963+947A>T
ENST00000525137.1:c.331-892A>T	ENSP00000435956.1:n.331-892A>T
ENST00000533800.5:c.213+947A>T	ENSP00000435011.1:n.213+947A>T
ENST00000534795.5:c.319+947A>T
NM_001163817.1:c.963+947A>T	NP_001157289.1:n.963+947A>T
NM_001360.2:c.963+947A>T , LRG_340t1:c.963+947A>T	NP_001351.2:n.963+947A>T
XM_011544777.1:c.964-892A>T	XP_011543079.1:n.964-892A>T
XM_011544777.2:c.964-892A>T	XP_011543079.1:n.964-892A>T
NM_001163817.2:c.963+947A>T	NP_001157289.1:n.963+947A>T
NM_001360.3:c.963+947A>T MANE Select	NP_001351.2:n.963+947A>T