Canonical Allele Identifier: CA1519920451
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186199018C= , CM000666.2:g.186199018C= GRCh38
NC_000004.11:g.187120172C= , CM000666.1:g.187120172C= GRCh37
NC_000004.10:g.187357166C= NCBI36
NG_007965.1:g.12499C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.736C= MANE Select ENSP00000368079.4:p.Leu246=
ENST00000378802.4:c.736C= ENSP00000368079.4:p.Leu246=
ENST00000507209.5:n.1577C=
NM_207352.3:c.736C= NP_997235.3:p.Leu246=
XM_005262935.2:c.736C= XP_005262992.1:p.Leu246=
XM_006714184.2:c.340C= XP_006714247.1:p.Leu114=
XM_005262935.4:c.736C= XP_005262992.1:p.Leu246=
XM_017008037.1:c.340C= XP_016863526.1:p.Leu114=
NM_207352.4:c.736C= MANE Select NP_997235.3:p.Leu246=