Canonical Allele Identifier: CA358948096
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186199055T>A , CM000666.2:g.186199055T>A GRCh38
NC_000004.11:g.187120209T>A , CM000666.1:g.187120209T>A GRCh37
NC_000004.10:g.187357203T>A NCBI36
NG_007965.1:g.12536T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.773T>A MANE Select ENSP00000368079.4:p.Leu258His
ENST00000378802.4:c.773T>A ENSP00000368079.4:p.Leu258His
ENST00000507209.5:n.1614T>A
NM_207352.3:c.773T>A NP_997235.3:p.Leu258His
XM_005262935.2:c.773T>A XP_005262992.1:p.Leu258His
XM_006714184.2:c.377T>A XP_006714247.1:p.Leu126His
XM_005262935.4:c.773T>A XP_005262992.1:p.Leu258His
XM_017008037.1:c.377T>A XP_016863526.1:p.Leu126His
NM_207352.4:c.773T>A MANE Select NP_997235.3:p.Leu258His