Canonical Allele Identifier: CA381701672

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1601850
• ClinVar RCV Id: RCV002127550
• dbSNP Id: rs2135939758
• MyVariant Identifiers: chr11:g.71146676G>A (hg19) ; chr11:g.71435630G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435630G>A , CM000673.2:g.71435630G>A	GRCh38
NC_000011.9:g.71146676G>A , CM000673.1:g.71146676G>A	GRCh37
NC_000011.8:g.70824324G>A	NCBI36
NG_012655.2:g.17802C>T , LRG_340:g.17802C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1173C>T	ENSP00000435707.3:p.His391=
ENST00000526780.6:c.1173C>T	ENSP00000435668.2:p.His391=
ENST00000527316.6:c.999C>T	ENSP00000435047.2:p.His333=
ENST00000682708.1:c.1224C>T	ENSP00000506866.1:p.His408=
ENST00000683287.1:c.1209C>T	ENSP00000507607.1:p.His403=
ENST00000683714.1:c.1181C>T	ENSP00000508207.1:p.Thr394Ile
ENST00000684396.1:n.1213C>T
ENST00000685320.1:c.588C>T	ENSP00000509319.1:p.His196=
ENST00000690257.1:c.1077C>T	ENSP00000510750.1:p.His359=
ENST00000355527.8:c.1173C>T MANE Select	ENSP00000347717.4:p.His391=
ENST00000355527.7:c.1173C>T	ENSP00000347717.3:p.His391=
ENST00000407721.6:c.1173C>T	ENSP00000384739.2:p.His391=
ENST00000525137.1:c.674C>T	ENSP00000435956.1:p.Thr225Ile
ENST00000533800.5:c.423C>T	ENSP00000435011.1:p.His141=
ENST00000534795.5:c.319+2182C>T
NM_001163817.1:c.1173C>T	NP_001157289.1:p.His391=
NM_001360.2:c.1173C>T , LRG_340t1:c.1173C>T	NP_001351.2:p.His391=
XM_011544777.1:c.1307C>T	XP_011543079.1:p.Thr436Ile
XM_011544777.2:c.1307C>T	XP_011543079.1:p.Thr436Ile
NM_001163817.2:c.1173C>T	NP_001157289.1:p.His391=
NM_001360.3:c.1173C>T MANE Select	NP_001351.2:p.His391=