Canonical Allele Identifier: CA358947605
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186197100A>C , CM000666.2:g.186197100A>C GRCh38
NC_000004.11:g.187118254A>C , CM000666.1:g.187118254A>C GRCh37
NC_000004.10:g.187355248A>C NCBI36
NG_007965.1:g.10581A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.574A>C MANE Select ENSP00000368079.4:p.Ile192Leu
ENST00000378802.4:c.574A>C ENSP00000368079.4:p.Ile192Leu
ENST00000507209.5:n.1013A>C
NM_207352.3:c.574A>C NP_997235.3:p.Ile192Leu
XM_005262935.2:c.574A>C XP_005262992.1:p.Ile192Leu
XM_006714184.2:c.178A>C XP_006714247.1:p.Ile60Leu
XM_005262935.4:c.574A>C XP_005262992.1:p.Ile192Leu
XM_017008037.1:c.178A>C XP_016863526.1:p.Ile60Leu
NM_207352.4:c.574A>C MANE Select NP_997235.3:p.Ile192Leu