Canonical Allele Identifier: CA358950145
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1132C>G MANE Select ENSP00000368079.4:p.Leu378Val
ENST00000378802.4:c.1132C>G ENSP00000368079.4:p.Leu378Val
ENST00000502665.1:n.367C>G
ENST00000507209.5:n.5830C>G
ENST00000513354.5:n.222C>G
NM_207352.3:c.1132C>G NP_997235.3:p.Leu378Val
XM_005262935.2:c.1132C>G XP_005262992.1:p.Leu378Val
XM_006714184.2:c.736C>G XP_006714247.1:p.Leu246Val
XM_005262935.4:c.1132C>G XP_005262992.1:p.Leu378Val
XM_017008037.1:c.736C>G XP_016863526.1:p.Leu246Val
NM_207352.4:c.1132C>G MANE Select NP_997235.3:p.Leu378Val