Canonical Allele Identifier: CA381701873

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71435667-T-C
• MyVariant Identifiers: chr11:g.71146713T>C (hg19) ; chr11:g.71435667T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435667T>C , CM000673.2:g.71435667T>C	GRCh38
NC_000011.9:g.71146713T>C , CM000673.1:g.71146713T>C	GRCh37
NC_000011.8:g.70824361T>C	NCBI36
NG_012655.2:g.17765A>G , LRG_340:g.17765A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1136A>G	ENSP00000435707.3:p.Glu379Gly
ENST00000526780.6:c.1136A>G	ENSP00000435668.2:p.Glu379Gly
ENST00000527316.6:c.962A>G	ENSP00000435047.2:p.Glu321Gly
ENST00000682708.1:c.1187A>G	ENSP00000506866.1:p.Glu396Gly
ENST00000683287.1:c.1172A>G	ENSP00000507607.1:p.Glu391Gly
ENST00000683714.1:c.1144A>G	ENSP00000508207.1:p.Ser382Gly
ENST00000684396.1:n.1176A>G
ENST00000685320.1:c.551A>G	ENSP00000509319.1:p.Glu184Gly
ENST00000690257.1:c.1040A>G	ENSP00000510750.1:p.Glu347Gly
ENST00000355527.8:c.1136A>G MANE Select	ENSP00000347717.4:p.Glu379Gly
ENST00000355527.7:c.1136A>G	ENSP00000347717.3:p.Glu379Gly
ENST00000407721.6:c.1136A>G	ENSP00000384739.2:p.Glu379Gly
ENST00000525137.1:c.637A>G	ENSP00000435956.1:p.Ser213Gly
ENST00000533800.5:c.386A>G	ENSP00000435011.1:p.Glu129Gly
ENST00000534795.5:c.319+2145A>G
NM_001163817.1:c.1136A>G	NP_001157289.1:p.Glu379Gly
NM_001360.2:c.1136A>G , LRG_340t1:c.1136A>G	NP_001351.2:p.Glu379Gly
XM_011544777.1:c.1270A>G	XP_011543079.1:p.Ser424Gly
XM_011544777.2:c.1270A>G	XP_011543079.1:p.Ser424Gly
NM_001163817.2:c.1136A>G	NP_001157289.1:p.Glu379Gly
NM_001360.3:c.1136A>G MANE Select	NP_001351.2:p.Glu379Gly