Canonical Allele Identifier: CA679812018

Gene: DHCR7

Linked Data

• dbSNP Id: rs1159156529
• MyVariant Identifiers: chr11:g.71147915G>A (hg19) ; chr11:g.71436869G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71436869G>A , CM000673.2:g.71436869G>A	GRCh38
NC_000011.9:g.71147915G>A , CM000673.1:g.71147915G>A	GRCh37
NC_000011.8:g.70825563G>A	NCBI36
NG_012655.2:g.16563C>T , LRG_340:g.16563C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.963+943C>T	ENSP00000435707.3:n.963+943C>T
ENST00000526780.6:c.963+943C>T	ENSP00000435668.2:n.963+943C>T
ENST00000527316.6:c.789+943C>T	ENSP00000435047.2:n.789+943C>T
ENST00000682708.1:c.1014+943C>T	ENSP00000506866.1:n.1014+943C>T
ENST00000682880.1:c.*805C>T	ENSP00000507520.1:n.*805C>T
ENST00000683287.1:c.999+943C>T	ENSP00000507607.1:n.999+943C>T
ENST00000683714.1:c.971+935C>T	ENSP00000508207.1:n.971+935C>T
ENST00000684396.1:n.1003+943C>T
ENST00000685320.1:c.378+943C>T	ENSP00000509319.1:n.378+943C>T
ENST00000690257.1:c.867+943C>T	ENSP00000510750.1:n.867+943C>T
ENST00000355527.8:c.963+943C>T MANE Select	ENSP00000347717.4:n.963+943C>T
ENST00000355527.7:c.963+943C>T	ENSP00000347717.3:n.963+943C>T
ENST00000407721.6:c.963+943C>T	ENSP00000384739.2:n.963+943C>T
ENST00000525137.1:c.331-896C>T	ENSP00000435956.1:n.331-896C>T
ENST00000533800.5:c.213+943C>T	ENSP00000435011.1:n.213+943C>T
ENST00000534795.5:c.319+943C>T
NM_001163817.1:c.963+943C>T	NP_001157289.1:n.963+943C>T
NM_001360.2:c.963+943C>T , LRG_340t1:c.963+943C>T	NP_001351.2:n.963+943C>T
XM_011544777.1:c.964-896C>T	XP_011543079.1:n.964-896C>T
XM_011544777.2:c.964-896C>T	XP_011543079.1:n.964-896C>T
NM_001163817.2:c.963+943C>T	NP_001157289.1:n.963+943C>T
NM_001360.3:c.963+943C>T MANE Select	NP_001351.2:n.963+943C>T