Canonical Allele Identifier: CA358947575
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186197088T>C , CM000666.2:g.186197088T>C GRCh38
NC_000004.11:g.187118242T>C , CM000666.1:g.187118242T>C GRCh37
NC_000004.10:g.187355236T>C NCBI36
NG_007965.1:g.10569T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.562T>C MANE Select ENSP00000368079.4:p.Cys188Arg
ENST00000378802.4:c.562T>C ENSP00000368079.4:p.Cys188Arg
ENST00000507209.5:n.1001T>C
NM_207352.3:c.562T>C NP_997235.3:p.Cys188Arg
XM_005262935.2:c.562T>C XP_005262992.1:p.Cys188Arg
XM_006714184.2:c.166T>C XP_006714247.1:p.Cys56Arg
XM_005262935.4:c.562T>C XP_005262992.1:p.Cys188Arg
XM_017008037.1:c.166T>C XP_016863526.1:p.Cys56Arg
NM_207352.4:c.562T>C MANE Select NP_997235.3:p.Cys188Arg