Canonical Allele Identifier: CA358946803
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186194505T>C , CM000666.2:g.186194505T>C GRCh38
NC_000004.11:g.187115659T>C , CM000666.1:g.187115659T>C GRCh37
NC_000004.10:g.187352653T>C NCBI36
NG_007965.1:g.7986T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.220T>C MANE Select ENSP00000368079.4:p.Phe74Leu
ENST00000378802.4:c.220T>C ENSP00000368079.4:p.Phe74Leu
NM_207352.3:c.220T>C NP_997235.3:p.Phe74Leu
XM_005262935.2:c.220T>C XP_005262992.1:p.Phe74Leu
XM_005262935.4:c.220T>C XP_005262992.1:p.Phe74Leu
XM_017008037.1:c.-91T>C XP_016863526.1:n.-91T>C
NM_207352.4:c.220T>C MANE Select NP_997235.3:p.Phe74Leu