Canonical Allele Identifier: CA358947586
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186197092T>C , CM000666.2:g.186197092T>C GRCh38
NC_000004.11:g.187118246T>C , CM000666.1:g.187118246T>C GRCh37
NC_000004.10:g.187355240T>C NCBI36
NG_007965.1:g.10573T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.566T>C MANE Select ENSP00000368079.4:p.Phe189Ser
ENST00000378802.4:c.566T>C ENSP00000368079.4:p.Phe189Ser
ENST00000507209.5:n.1005T>C
NM_207352.3:c.566T>C NP_997235.3:p.Phe189Ser
XM_005262935.2:c.566T>C XP_005262992.1:p.Phe189Ser
XM_006714184.2:c.170T>C XP_006714247.1:p.Phe57Ser
XM_005262935.4:c.566T>C XP_005262992.1:p.Phe189Ser
XM_017008037.1:c.170T>C XP_016863526.1:p.Phe57Ser
NM_207352.4:c.566T>C MANE Select NP_997235.3:p.Phe189Ser