Canonical Allele Identifier: CA381702263

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146801T>A (hg19) ; chr11:g.71435755T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435755T>A , CM000673.2:g.71435755T>A	GRCh38
NC_000011.9:g.71146801T>A , CM000673.1:g.71146801T>A	GRCh37
NC_000011.8:g.70824449T>A	NCBI36
NG_012655.2:g.17677A>T , LRG_340:g.17677A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1048A>T	ENSP00000435707.3:p.Ile350Phe
ENST00000526780.6:c.1048A>T	ENSP00000435668.2:p.Ile350Phe
ENST00000527316.6:c.874A>T	ENSP00000435047.2:p.Ile292Phe
ENST00000682708.1:c.1099A>T	ENSP00000506866.1:p.Ile367Phe
ENST00000683287.1:c.1084A>T	ENSP00000507607.1:p.Ile362Phe
ENST00000683714.1:c.1056A>T	ENSP00000508207.1:p.Thr352=
ENST00000684396.1:n.1088A>T
ENST00000685320.1:c.463A>T	ENSP00000509319.1:p.Ile155Phe
ENST00000690257.1:c.952A>T	ENSP00000510750.1:p.Ile318Phe
ENST00000355527.8:c.1048A>T MANE Select	ENSP00000347717.4:p.Ile350Phe
ENST00000355527.7:c.1048A>T	ENSP00000347717.3:p.Ile350Phe
ENST00000407721.6:c.1048A>T	ENSP00000384739.2:p.Ile350Phe
ENST00000525137.1:c.549A>T	ENSP00000435956.1:p.Thr183=
ENST00000533800.5:c.298A>T	ENSP00000435011.1:p.Ile100Phe
ENST00000534795.5:c.319+2057A>T
NM_001163817.1:c.1048A>T	NP_001157289.1:p.Ile350Phe
NM_001360.2:c.1048A>T , LRG_340t1:c.1048A>T	NP_001351.2:p.Ile350Phe
XM_011544777.1:c.1182A>T	XP_011543079.1:p.Thr394=
XM_011544777.2:c.1182A>T	XP_011543079.1:p.Thr394=
NM_001163817.2:c.1048A>T	NP_001157289.1:p.Ile350Phe
NM_001360.3:c.1048A>T MANE Select	NP_001351.2:p.Ile350Phe