Canonical Allele Identifier: CA381703204

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71149935T>A (hg19) ; chr11:g.71438889T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71438889T>A , CM000673.2:g.71438889T>A	GRCh38
NC_000011.9:g.71149935T>A , CM000673.1:g.71149935T>A	GRCh37
NC_000011.8:g.70827583T>A	NCBI36
NG_012655.2:g.14543A>T , LRG_340:g.14543A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.821A>T	ENSP00000435707.3:p.Asn274Ile
ENST00000526780.6:c.821A>T	ENSP00000435668.2:p.Asn274Ile
ENST00000527316.6:c.647A>T	ENSP00000435047.2:p.Asn216Ile
ENST00000682708.1:c.872A>T	ENSP00000506866.1:p.Asn291Ile
ENST00000682880.1:c.821A>T	ENSP00000507520.1:p.Asn274Ile
ENST00000683287.1:c.857A>T	ENSP00000507607.1:p.Asn286Ile
ENST00000683714.1:c.821A>T	ENSP00000508207.1:p.Asn274Ile
ENST00000684396.1:n.861A>T
ENST00000685320.1:c.236A>T	ENSP00000509319.1:p.Asn79Ile
ENST00000690257.1:c.725A>T	ENSP00000510750.1:p.Asn242Ile
ENST00000355527.8:c.821A>T MANE Select	ENSP00000347717.4:p.Asn274Ile
ENST00000355527.7:c.821A>T	ENSP00000347717.3:p.Asn274Ile
ENST00000407721.6:c.821A>T	ENSP00000384739.2:p.Asn274Ile
ENST00000525137.1:c.188A>T	ENSP00000435956.1:p.Asn63Ile
ENST00000527316.5:c.725A>T	ENSP00000435047.1:p.Asn242Ile
ENST00000533800.5:c.71A>T	ENSP00000435011.1:p.Asn24Ile
ENST00000534701.1:n.316A>T
ENST00000534795.5:c.177A>T
NM_001163817.1:c.821A>T	NP_001157289.1:p.Asn274Ile
NM_001360.2:c.821A>T , LRG_340t1:c.821A>T	NP_001351.2:p.Asn274Ile
XM_011544777.1:c.821A>T	XP_011543079.1:p.Asn274Ile
XM_011544777.2:c.821A>T	XP_011543079.1:p.Asn274Ile
NM_001163817.2:c.821A>T	NP_001157289.1:p.Asn274Ile
NM_001360.3:c.821A>T MANE Select	NP_001351.2:p.Asn274Ile