Canonical Allele Identifier: CA358947796
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186197578C>A , CM000666.2:g.186197578C>A GRCh38
NC_000004.11:g.187118732C>A , CM000666.1:g.187118732C>A GRCh37
NC_000004.10:g.187355726C>A NCBI36
NG_007965.1:g.11059C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.650C>A MANE Select ENSP00000368079.4:p.Ser217Tyr
ENST00000378802.4:c.650C>A ENSP00000368079.4:p.Ser217Tyr
ENST00000507209.5:n.1491C>A
NM_207352.3:c.650C>A NP_997235.3:p.Ser217Tyr
XM_005262935.2:c.650C>A XP_005262992.1:p.Ser217Tyr
XM_006714184.2:c.254C>A XP_006714247.1:p.Ser85Tyr
XM_005262935.4:c.650C>A XP_005262992.1:p.Ser217Tyr
XM_017008037.1:c.254C>A XP_016863526.1:p.Ser85Tyr
NM_207352.4:c.650C>A MANE Select NP_997235.3:p.Ser217Tyr