Canonical Allele Identifier: CA358947621
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186197107T>A , CM000666.2:g.186197107T>A GRCh38
NC_000004.11:g.187118261T>A , CM000666.1:g.187118261T>A GRCh37
NC_000004.10:g.187355255T>A NCBI36
NG_007965.1:g.10588T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.581T>A MANE Select ENSP00000368079.4:p.Leu194His
ENST00000378802.4:c.581T>A ENSP00000368079.4:p.Leu194His
ENST00000507209.5:n.1020T>A
NM_207352.3:c.581T>A NP_997235.3:p.Leu194His
XM_005262935.2:c.581T>A XP_005262992.1:p.Leu194His
XM_006714184.2:c.185T>A XP_006714247.1:p.Leu62His
XM_005262935.4:c.581T>A XP_005262992.1:p.Leu194His
XM_017008037.1:c.185T>A XP_016863526.1:p.Leu62His
NM_207352.4:c.581T>A MANE Select NP_997235.3:p.Leu194His