Canonical Allele Identifier: CA381702255

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 2822414
• ClinVar RCV Id: RCV003618560
• MyVariant Identifiers: chr11:g.71146799G>A (hg19) ; chr11:g.71435753G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435753G>A , CM000673.2:g.71435753G>A	GRCh38
NC_000011.9:g.71146799G>A , CM000673.1:g.71146799G>A	GRCh37
NC_000011.8:g.70824447G>A	NCBI36
NG_012655.2:g.17679C>T , LRG_340:g.17679C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1050C>T	ENSP00000435707.3:p.Ile350=
ENST00000526780.6:c.1050C>T	ENSP00000435668.2:p.Ile350=
ENST00000527316.6:c.876C>T	ENSP00000435047.2:p.Ile292=
ENST00000682708.1:c.1101C>T	ENSP00000506866.1:p.Ile367=
ENST00000683287.1:c.1086C>T	ENSP00000507607.1:p.Ile362=
ENST00000683714.1:c.1058C>T	ENSP00000508207.1:p.Ser353Phe
ENST00000684396.1:n.1090C>T
ENST00000685320.1:c.465C>T	ENSP00000509319.1:p.Ile155=
ENST00000690257.1:c.954C>T	ENSP00000510750.1:p.Ile318=
ENST00000355527.8:c.1050C>T MANE Select	ENSP00000347717.4:p.Ile350=
ENST00000355527.7:c.1050C>T	ENSP00000347717.3:p.Ile350=
ENST00000407721.6:c.1050C>T	ENSP00000384739.2:p.Ile350=
ENST00000525137.1:c.551C>T	ENSP00000435956.1:p.Ser184Phe
ENST00000533800.5:c.300C>T	ENSP00000435011.1:p.Ile100=
ENST00000534795.5:c.319+2059C>T
NM_001163817.1:c.1050C>T	NP_001157289.1:p.Ile350=
NM_001360.2:c.1050C>T , LRG_340t1:c.1050C>T	NP_001351.2:p.Ile350=
XM_011544777.1:c.1184C>T	XP_011543079.1:p.Ser395Phe
XM_011544777.2:c.1184C>T	XP_011543079.1:p.Ser395Phe
NM_001163817.2:c.1050C>T	NP_001157289.1:p.Ile350=
NM_001360.3:c.1050C>T MANE Select	NP_001351.2:p.Ile350=