Canonical Allele Identifier: CA381702076
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 427052
ClinVar RCV Id: RCV000489040
dbSNP Id: rs1085307925

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71435713T>C , CM000673.2:g.71435713T>C GRCh38
NC_000011.9:g.71146759T>C , CM000673.1:g.71146759T>C GRCh37
NC_000011.8:g.70824407T>C NCBI36
NG_012655.2:g.17719A>G , LRG_340:g.17719A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000525346.6:c.1090A>G ENSP00000435707.3:p.Thr364Ala
ENST00000526780.6:c.1090A>G ENSP00000435668.2:p.Thr364Ala
ENST00000527316.6:c.916A>G ENSP00000435047.2:p.Thr306Ala
ENST00000682708.1:c.1141A>G ENSP00000506866.1:p.Thr381Ala
ENST00000683287.1:c.1126A>G ENSP00000507607.1:p.Thr376Ala
ENST00000683714.1:c.1098A>G ENSP00000508207.1:p.Ala366=
ENST00000684396.1:n.1130A>G
ENST00000685320.1:c.505A>G ENSP00000509319.1:p.Thr169Ala
ENST00000690257.1:c.994A>G ENSP00000510750.1:p.Thr332Ala
ENST00000355527.8:c.1090A>G MANE Select ENSP00000347717.4:p.Thr364Ala
ENST00000355527.7:c.1090A>G ENSP00000347717.3:p.Thr364Ala
ENST00000407721.6:c.1090A>G ENSP00000384739.2:p.Thr364Ala
ENST00000525137.1:c.591A>G ENSP00000435956.1:p.Ala197=
ENST00000533800.5:c.340A>G ENSP00000435011.1:p.Thr114Ala
ENST00000534795.5:c.319+2099A>G
NM_001163817.1:c.1090A>G NP_001157289.1:p.Thr364Ala
NM_001360.2:c.1090A>G , LRG_340t1:c.1090A>G NP_001351.2:p.Thr364Ala
XM_011544777.1:c.1224A>G XP_011543079.1:p.Ala408=
XM_011544777.2:c.1224A>G XP_011543079.1:p.Ala408=
NM_001163817.2:c.1090A>G NP_001157289.1:p.Thr364Ala
NM_001360.3:c.1090A>G MANE Select NP_001351.2:p.Thr364Ala