Canonical Allele Identifier: CA1519891306
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186208906C= , CM000666.2:g.186208906C= GRCh38
NC_000004.11:g.187130060C= , CM000666.1:g.187130060C= GRCh37
NC_000004.10:g.187367054C= NCBI36
NG_007965.1:g.22387C=
NG_012095.2:g.4928C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1132C= MANE Select ENSP00000368079.4:p.Leu378=
ENST00000378802.4:c.1132C= ENSP00000368079.4:p.Leu378=
ENST00000502665.1:n.367C=
ENST00000507209.5:n.5830C=
ENST00000513354.5:n.222C=
NM_207352.3:c.1132C= NP_997235.3:p.Leu378=
XM_005262935.2:c.1132C= XP_005262992.1:p.Leu378=
XM_006714184.2:c.736C= XP_006714247.1:p.Leu246=
XM_005262935.4:c.1132C= XP_005262992.1:p.Leu378=
XM_017008037.1:c.736C= XP_016863526.1:p.Leu246=
NM_207352.4:c.1132C= MANE Select NP_997235.3:p.Leu378=