Canonical Allele Identifier: CA475566015

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146526G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435480G>C , CM000673.2:g.71435480G>C	GRCh38
NC_000011.9:g.71146526G>C , CM000673.1:g.71146526G>C	GRCh37
NC_000011.8:g.70824174G>C	NCBI36
NG_012655.2:g.17952C>G , LRG_340:g.17952C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1323C>G	ENSP00000435707.3:p.Thr441=
ENST00000526780.6:c.1323C>G	ENSP00000435668.2:p.Thr441=
ENST00000527316.6:c.1149C>G	ENSP00000435047.2:p.Thr383=
ENST00000682708.1:c.1374C>G	ENSP00000506866.1:p.Thr458=
ENST00000683287.1:c.1359C>G	ENSP00000507607.1:p.Thr453=
ENST00000683714.1:c.*86C>G	ENSP00000508207.1:n.*86C>G
ENST00000684396.1:n.1363C>G
ENST00000685320.1:c.738C>G	ENSP00000509319.1:p.Thr246=
ENST00000690257.1:c.1227C>G	ENSP00000510750.1:p.Thr409=
ENST00000355527.8:c.1323C>G MANE Select	ENSP00000347717.4:p.Thr441=
ENST00000355527.7:c.1323C>G	ENSP00000347717.3:p.Thr441=
ENST00000407721.6:c.1323C>G	ENSP00000384739.2:p.Thr441=
ENST00000525137.1:c.824C>G	ENSP00000435956.1:n.824C>G
ENST00000533800.5:c.573C>G	ENSP00000435011.1:p.Thr191=
ENST00000534795.5:c.319+2332C>G
NM_001163817.1:c.1323C>G	NP_001157289.1:p.Thr441=
NM_001360.2:c.1323C>G , LRG_340t1:c.1323C>G	NP_001351.2:p.Thr441=
XM_011544777.1:c.*86C>G	XP_011543079.1:n.*86C>G
XM_011544777.2:c.*86C>G	XP_011543079.1:n.*86C>G
NM_001163817.2:c.1323C>G	NP_001157289.1:p.Thr441=
NM_001360.3:c.1323C>G MANE Select	NP_001351.2:p.Thr441=