Canonical Allele Identifier: CA381702250

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146798A>C (hg19) ; chr11:g.71435752A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435752A>C , CM000673.2:g.71435752A>C	GRCh38
NC_000011.9:g.71146798A>C , CM000673.1:g.71146798A>C	GRCh37
NC_000011.8:g.70824446A>C	NCBI36
NG_012655.2:g.17680T>G , LRG_340:g.17680T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1051T>G	ENSP00000435707.3:p.Phe351Val
ENST00000526780.6:c.1051T>G	ENSP00000435668.2:p.Phe351Val
ENST00000527316.6:c.877T>G	ENSP00000435047.2:p.Phe293Val
ENST00000682708.1:c.1102T>G	ENSP00000506866.1:p.Phe368Val
ENST00000683287.1:c.1087T>G	ENSP00000507607.1:p.Phe363Val
ENST00000683714.1:c.1059T>G	ENSP00000508207.1:p.Ser353=
ENST00000684396.1:n.1091T>G
ENST00000685320.1:c.466T>G	ENSP00000509319.1:p.Phe156Val
ENST00000690257.1:c.955T>G	ENSP00000510750.1:p.Phe319Val
ENST00000355527.8:c.1051T>G MANE Select	ENSP00000347717.4:p.Phe351Val
ENST00000355527.7:c.1051T>G	ENSP00000347717.3:p.Phe351Val
ENST00000407721.6:c.1051T>G	ENSP00000384739.2:p.Phe351Val
ENST00000525137.1:c.552T>G	ENSP00000435956.1:p.Ser184=
ENST00000533800.5:c.301T>G	ENSP00000435011.1:p.Phe101Val
ENST00000534795.5:c.319+2060T>G
NM_001163817.1:c.1051T>G	NP_001157289.1:p.Phe351Val
NM_001360.2:c.1051T>G , LRG_340t1:c.1051T>G	NP_001351.2:p.Phe351Val
XM_011544777.1:c.1185T>G	XP_011543079.1:p.Ser395=
XM_011544777.2:c.1185T>G	XP_011543079.1:p.Ser395=
NM_001163817.2:c.1051T>G	NP_001157289.1:p.Phe351Val
NM_001360.3:c.1051T>G MANE Select	NP_001351.2:p.Phe351Val