Canonical Allele Identifier: CA358950713
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209269A>T , CM000666.2:g.186209269A>T GRCh38
NC_000004.11:g.187130423A>T , CM000666.1:g.187130423A>T GRCh37
NC_000004.10:g.187367417A>T NCBI36
NG_007965.1:g.22750A>T
NG_012095.2:g.5291A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1402A>T MANE Select ENSP00000368079.4:p.Ile468Leu
ENST00000378802.4:c.1402A>T ENSP00000368079.4:p.Ile468Leu
ENST00000502665.1:n.637A>T
ENST00000507209.5:n.6100A>T
ENST00000511608.5:n.198A>T
ENST00000513354.5:n.492A>T
NM_207352.3:c.1402A>T NP_997235.3:p.Ile468Leu
XM_005262935.2:c.1399A>T XP_005262992.1:p.Ile467Leu
XM_006714184.2:c.1006A>T XP_006714247.1:p.Ile336Leu
XM_005262935.4:c.1399A>T XP_005262992.1:p.Ile467Leu
XM_017008037.1:c.1006A>T XP_016863526.1:p.Ile336Leu
NM_207352.4:c.1402A>T MANE Select NP_997235.3:p.Ile468Leu