Canonical Allele Identifier: CA090917
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 93725
dbSNP Id: rs138659167

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71435840C>G , CM000673.2:g.71435840C>G GRCh38
NC_000011.9:g.71146886C>G , CM000673.1:g.71146886C>G GRCh37
NC_000011.8:g.70824534C>G NCBI36
NG_012655.2:g.17592G>C , LRG_340:g.17592G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000525346.6:c.964-1G>C ENSP00000435707.3:n.964-1G>C
ENST00000526780.6:c.964-1G>C ENSP00000435668.2:n.964-1G>C
ENST00000527316.6:c.790-1G>C ENSP00000435047.2:n.790-1G>C
ENST00000682708.1:c.1015-1G>C ENSP00000506866.1:n.1015-1G>C
ENST00000683287.1:c.1000-1G>C ENSP00000507607.1:n.1000-1G>C
ENST00000683714.1:c.972-1G>C ENSP00000508207.1:n.972-1G>C
ENST00000684396.1:n.1004-1G>C
ENST00000685320.1:c.379-1G>C ENSP00000509319.1:n.379-1G>C
ENST00000690257.1:c.868-1G>C ENSP00000510750.1:n.868-1G>C
ENST00000355527.8:c.964-1G>C MANE Select ENSP00000347717.4:n.964-1G>C
ENST00000355527.7:c.964-1G>C ENSP00000347717.3:n.964-1G>C
ENST00000407721.6:c.964-1G>C ENSP00000384739.2:n.964-1G>C
ENST00000525137.1:c.464G>C ENSP00000435956.1:p.Arg155Thr
ENST00000533800.5:c.214-1G>C ENSP00000435011.1:n.214-1G>C
ENST00000534795.5:c.319+1972G>C
NM_001163817.1:c.964-1G>C NP_001157289.1:n.964-1G>C
NM_001360.2:c.964-1G>C , LRG_340t1:c.964-1G>C NP_001351.2:n.964-1G>C
XM_011544777.1:c.1097G>C XP_011543079.1:p.Arg366Thr
XM_011544777.2:c.1097G>C XP_011543079.1:p.Arg366Thr
NM_001163817.2:c.964-1G>C NP_001157289.1:n.964-1G>C
NM_001360.3:c.964-1G>C MANE Select NP_001351.2:n.964-1G>C