Canonical Allele Identifier: CA273326
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 166978
ClinVar RCV Id: RCV000153133
dbSNP Id: rs144109267

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209260A>G , CM000666.2:g.186209260A>G GRCh38
NC_000004.11:g.187130414A>G , CM000666.1:g.187130414A>G GRCh37
NC_000004.10:g.187367408A>G NCBI36
NG_007965.1:g.22741A>G
NG_012095.2:g.5282A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1393A>G MANE Select ENSP00000368079.4:p.Arg465Gly
ENST00000378802.4:c.1393A>G ENSP00000368079.4:p.Arg465Gly
ENST00000502665.1:n.628A>G
ENST00000507209.5:n.6091A>G
ENST00000511608.5:n.189A>G
ENST00000513354.5:n.483A>G
NM_207352.3:c.1393A>G NP_997235.3:p.Arg465Gly
XM_005262935.2:c.1390A>G XP_005262992.1:p.Arg464Gly
XM_006714184.2:c.997A>G XP_006714247.1:p.Arg333Gly
XM_005262935.4:c.1390A>G XP_005262992.1:p.Arg464Gly
XM_017008037.1:c.997A>G XP_016863526.1:p.Arg333Gly
NM_207352.4:c.1393A>G MANE Select NP_997235.3:p.Arg465Gly