Canonical Allele Identifier: CA358948108
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1384793
ClinVar RCV Id: RCV001924916
dbSNP Id: rs1489291710

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186199060A>T , CM000666.2:g.186199060A>T GRCh38
NC_000004.11:g.187120214A>T , CM000666.1:g.187120214A>T GRCh37
NC_000004.10:g.187357208A>T NCBI36
NG_007965.1:g.12541A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.778A>T MANE Select ENSP00000368079.4:p.Ile260Phe
ENST00000378802.4:c.778A>T ENSP00000368079.4:p.Ile260Phe
ENST00000507209.5:n.1619A>T
NM_207352.3:c.778A>T NP_997235.3:p.Ile260Phe
XM_005262935.2:c.778A>T XP_005262992.1:p.Ile260Phe
XM_006714184.2:c.382A>T XP_006714247.1:p.Ile128Phe
XM_005262935.4:c.778A>T XP_005262992.1:p.Ile260Phe
XM_017008037.1:c.382A>T XP_016863526.1:p.Ile128Phe
NM_207352.4:c.778A>T MANE Select NP_997235.3:p.Ile260Phe