Canonical Allele Identifier: CA358948025
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186199026T>G , CM000666.2:g.186199026T>G GRCh38
NC_000004.11:g.187120180T>G , CM000666.1:g.187120180T>G GRCh37
NC_000004.10:g.187357174T>G NCBI36
NG_007965.1:g.12507T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.744T>G MANE Select ENSP00000368079.4:p.Phe248Leu
ENST00000378802.4:c.744T>G ENSP00000368079.4:p.Phe248Leu
ENST00000507209.5:n.1585T>G
NM_207352.3:c.744T>G NP_997235.3:p.Phe248Leu
XM_005262935.2:c.744T>G XP_005262992.1:p.Phe248Leu
XM_006714184.2:c.348T>G XP_006714247.1:p.Phe116Leu
XM_005262935.4:c.744T>G XP_005262992.1:p.Phe248Leu
XM_017008037.1:c.348T>G XP_016863526.1:p.Phe116Leu
NM_207352.4:c.744T>G MANE Select NP_997235.3:p.Phe248Leu