Canonical Allele Identifier: CA913189918
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 596524
ClinVar RCV Id: RCV000732391
dbSNP Id: rs1561430786

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186194506_186194507del , CM000666.2:g.186194506_186194507del GRCh38
NC_000004.11:g.187115660_187115661del , CM000666.1:g.187115660_187115661del GRCh37
NC_000004.10:g.187352654_187352655del NCBI36
NG_007965.1:g.7987_7988del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.221_222del MANE Select ENSP00000368079.4:p.Phe74SerfsTer5
ENST00000378802.4:c.221_222del ENSP00000368079.4:p.Phe74SerfsTer5
NM_207352.3:c.221_222del NP_997235.3:p.Phe74SerfsTer5
XM_005262935.2:c.221_222del XP_005262992.1:p.Phe74SerfsTer5
XM_005262935.4:c.221_222del XP_005262992.1:p.Phe74SerfsTer5
XM_017008037.1:c.-90_-89del XP_016863526.1:n.-90_-89del
NM_207352.4:c.221_222del MANE Select NP_997235.3:p.Phe74SerfsTer5