Canonical Allele Identifier: CA358948006
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.736C>T MANE Select ENSP00000368079.4:p.Leu246Phe
ENST00000378802.4:c.736C>T ENSP00000368079.4:p.Leu246Phe
ENST00000507209.5:n.1577C>T
NM_207352.3:c.736C>T NP_997235.3:p.Leu246Phe
XM_005262935.2:c.736C>T XP_005262992.1:p.Leu246Phe
XM_006714184.2:c.340C>T XP_006714247.1:p.Leu114Phe
XM_005262935.4:c.736C>T XP_005262992.1:p.Leu246Phe
XM_017008037.1:c.340C>T XP_016863526.1:p.Leu114Phe
NM_207352.4:c.736C>T MANE Select NP_997235.3:p.Leu246Phe