Canonical Allele Identifier: CA343703
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 39248
ClinVar RCV Id: RCV000032525
dbSNP Id: rs199476198

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186205232G>A , CM000666.2:g.186205232G>A GRCh38
NC_000004.11:g.187126386G>A , CM000666.1:g.187126386G>A GRCh37
NC_000004.10:g.187363380G>A NCBI36
NG_007965.1:g.18713G>A
NG_012095.2:g.1254G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1020G>A MANE Select ENSP00000368079.4:p.Trp340Ter
ENST00000378802.4:c.1020G>A ENSP00000368079.4:p.Trp340Ter
ENST00000502665.1:n.255G>A
ENST00000507209.5:n.5718G>A
ENST00000513354.5:n.110G>A
NM_207352.3:c.1020G>A NP_997235.3:p.Trp340Ter
XM_005262935.2:c.1020G>A XP_005262992.1:p.Trp340Ter
XM_006714184.2:c.624G>A XP_006714247.1:p.Trp208Ter
XM_005262935.4:c.1020G>A XP_005262992.1:p.Trp340Ter
XM_017008037.1:c.624G>A XP_016863526.1:p.Trp208Ter
NM_207352.4:c.1020G>A MANE Select NP_997235.3:p.Trp340Ter