Canonical Allele Identifier: CA343728
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 39262
ClinVar RCV Id: RCV000032539
dbSNP Id: rs199476182

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186194613G>A , CM000666.2:g.186194613G>A GRCh38
NC_000004.11:g.187115767G>A , CM000666.1:g.187115767G>A GRCh37
NC_000004.10:g.187352761G>A NCBI36
NG_007965.1:g.8094G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.327+1G>A MANE Select ENSP00000368079.4:p.=
ENST00000378802.4:c.327+1G>A ENSP00000368079.4:p.=
NM_207352.3:c.327+1G>A NP_997235.3:p.=
XM_005262935.2:c.327+1G>A XP_005262992.1:p.=
XM_006714184.2:c.17+1G>A XP_006714247.1:p.=
XM_005262935.4:c.327+1G>A XP_005262992.1:p.=
XM_017008037.1:c.17+1G>A XP_016863526.1:p.=
NM_207352.4:c.327+1G>A MANE Select NP_997235.3:p.=