Canonical Allele Identifier: CA112135313
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1026716
ClinVar RCV Id: RCV001327200
dbSNP Id: rs934552351

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1402A>G MANE Select ENSP00000368079.4:p.Ile468Val
ENST00000378802.4:c.1402A>G ENSP00000368079.4:p.Ile468Val
ENST00000502665.1:n.637A>G
ENST00000507209.5:n.6100A>G
ENST00000511608.5:n.198A>G
ENST00000513354.5:n.492A>G
NM_207352.3:c.1402A>G NP_997235.3:p.Ile468Val
XM_005262935.2:c.1399A>G XP_005262992.1:p.Ile467Val
XM_006714184.2:c.1006A>G XP_006714247.1:p.Ile336Val
XM_005262935.4:c.1399A>G XP_005262992.1:p.Ile467Val
XM_017008037.1:c.1006A>G XP_016863526.1:p.Ile336Val
NM_207352.4:c.1402A>G MANE Select NP_997235.3:p.Ile468Val