Canonical Allele Identifier: CA381703104

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 2756505
• ClinVar RCV Id: RCV003507120
• MyVariant Identifiers: chr11:g.71148959C>A (hg19) ; chr11:g.71437913C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437913C>A , CM000673.2:g.71437913C>A	GRCh38
NC_000011.9:g.71148959C>A , CM000673.1:g.71148959C>A	GRCh37
NC_000011.8:g.70826607C>A	NCBI36
NG_012655.2:g.15519G>T , LRG_340:g.15519G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.862G>T	ENSP00000435707.3:p.Glu288Ter
ENST00000526780.6:c.862G>T	ENSP00000435668.2:p.Glu288Ter
ENST00000527316.6:c.688G>T	ENSP00000435047.2:p.Glu230Ter
ENST00000682708.1:c.913G>T	ENSP00000506866.1:p.Glu305Ter
ENST00000682880.1:c.862G>T	ENSP00000507520.1:p.Glu288Ter
ENST00000683287.1:c.898G>T	ENSP00000507607.1:p.Glu300Ter
ENST00000683714.1:c.862G>T	ENSP00000508207.1:p.Glu288Ter
ENST00000684396.1:n.902G>T
ENST00000685320.1:c.277G>T	ENSP00000509319.1:p.Glu93Ter
ENST00000690257.1:c.766G>T	ENSP00000510750.1:p.Glu256Ter
ENST00000355527.8:c.862G>T MANE Select	ENSP00000347717.4:p.Glu288Ter
ENST00000355527.7:c.862G>T	ENSP00000347717.3:p.Glu288Ter
ENST00000407721.6:c.862G>T	ENSP00000384739.2:p.Glu288Ter
ENST00000525137.1:c.229G>T	ENSP00000435956.1:p.Glu77Ter
ENST00000527316.5:c.766G>T	ENSP00000435047.1:p.Glu256Ter
ENST00000533800.5:c.112G>T	ENSP00000435011.1:p.Glu38Ter
ENST00000534795.5:c.218G>T
NM_001163817.1:c.862G>T	NP_001157289.1:p.Glu288Ter
NM_001360.2:c.862G>T , LRG_340t1:c.862G>T	NP_001351.2:p.Glu288Ter
XM_011544777.1:c.862G>T	XP_011543079.1:p.Glu288Ter
XM_011544777.2:c.862G>T	XP_011543079.1:p.Glu288Ter
NM_001163817.2:c.862G>T	NP_001157289.1:p.Glu288Ter
NM_001360.3:c.862G>T MANE Select	NP_001351.2:p.Glu288Ter