Canonical Allele Identifier: CA6162320
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 305955
ClinVar RCV Id: RCV000292578
dbSNP Id: rs780088227

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71435720G>T , CM000673.2:g.71435720G>T GRCh38
NC_000011.9:g.71146766G>T , CM000673.1:g.71146766G>T GRCh37
NC_000011.8:g.70824414G>T NCBI36
NG_012655.2:g.17712C>A , LRG_340:g.17712C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000525346.6:c.1083C>A ENSP00000435707.3:p.Phe361Leu
ENST00000526780.6:c.1083C>A ENSP00000435668.2:p.Phe361Leu
ENST00000527316.6:c.909C>A ENSP00000435047.2:p.Phe303Leu
ENST00000682708.1:c.1134C>A ENSP00000506866.1:p.Phe378Leu
ENST00000683287.1:c.1119C>A ENSP00000507607.1:p.Phe373Leu
ENST00000683714.1:c.1091C>A ENSP00000508207.1:p.Ser364Tyr
ENST00000684396.1:n.1123C>A
ENST00000685320.1:c.498C>A ENSP00000509319.1:p.Phe166Leu
ENST00000690257.1:c.987C>A ENSP00000510750.1:p.Phe329Leu
ENST00000355527.8:c.1083C>A MANE Select ENSP00000347717.4:p.Phe361Leu
ENST00000355527.7:c.1083C>A ENSP00000347717.3:p.Phe361Leu
ENST00000407721.6:c.1083C>A ENSP00000384739.2:p.Phe361Leu
ENST00000525137.1:c.584C>A ENSP00000435956.1:p.Ser195Tyr
ENST00000533800.5:c.333C>A ENSP00000435011.1:p.Phe111Leu
ENST00000534795.5:c.319+2092C>A
NM_001163817.1:c.1083C>A NP_001157289.1:p.Phe361Leu
NM_001360.2:c.1083C>A , LRG_340t1:c.1083C>A NP_001351.2:p.Phe361Leu
XM_011544777.1:c.1217C>A XP_011543079.1:p.Ser406Tyr
XM_011544777.2:c.1217C>A XP_011543079.1:p.Ser406Tyr
NM_001163817.2:c.1083C>A NP_001157289.1:p.Phe361Leu
NM_001360.3:c.1083C>A MANE Select NP_001351.2:p.Phe361Leu