Canonical Allele Identifier: CA381702119

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146768A>G (hg19) ; chr11:g.71435722A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435722A>G , CM000673.2:g.71435722A>G	GRCh38
NC_000011.9:g.71146768A>G , CM000673.1:g.71146768A>G	GRCh37
NC_000011.8:g.70824416A>G	NCBI36
NG_012655.2:g.17710T>C , LRG_340:g.17710T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1081T>C	ENSP00000435707.3:p.Phe361Leu
ENST00000526780.6:c.1081T>C	ENSP00000435668.2:p.Phe361Leu
ENST00000527316.6:c.907T>C	ENSP00000435047.2:p.Phe303Leu
ENST00000682708.1:c.1132T>C	ENSP00000506866.1:p.Phe378Leu
ENST00000683287.1:c.1117T>C	ENSP00000507607.1:p.Phe373Leu
ENST00000683714.1:c.1089T>C	ENSP00000508207.1:p.Cys363=
ENST00000684396.1:n.1121T>C
ENST00000685320.1:c.496T>C	ENSP00000509319.1:p.Phe166Leu
ENST00000690257.1:c.985T>C	ENSP00000510750.1:p.Phe329Leu
ENST00000355527.8:c.1081T>C MANE Select	ENSP00000347717.4:p.Phe361Leu
ENST00000355527.7:c.1081T>C	ENSP00000347717.3:p.Phe361Leu
ENST00000407721.6:c.1081T>C	ENSP00000384739.2:p.Phe361Leu
ENST00000525137.1:c.582T>C	ENSP00000435956.1:p.Cys194=
ENST00000533800.5:c.331T>C	ENSP00000435011.1:p.Phe111Leu
ENST00000534795.5:c.319+2090T>C
NM_001163817.1:c.1081T>C	NP_001157289.1:p.Phe361Leu
NM_001360.2:c.1081T>C , LRG_340t1:c.1081T>C	NP_001351.2:p.Phe361Leu
XM_011544777.1:c.1215T>C	XP_011543079.1:p.Cys405=
XM_011544777.2:c.1215T>C	XP_011543079.1:p.Cys405=
NM_001163817.2:c.1081T>C	NP_001157289.1:p.Phe361Leu
NM_001360.3:c.1081T>C MANE Select	NP_001351.2:p.Phe361Leu