Canonical Allele Identifier: CA339957
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2190
ClinVar RCV Id: RCV000002274
dbSNP Id: rs119103285

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186192004G>A , CM000666.2:g.186192004G>A GRCh38
NC_000004.11:g.187113158G>A , CM000666.1:g.187113158G>A GRCh37
NC_000004.10:g.187350152G>A NCBI36
NG_007965.1:g.5485G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.181G>A MANE Select ENSP00000368079.4:p.Gly61Ser
ENST00000378802.4:c.181G>A ENSP00000368079.4:p.Gly61Ser
NM_207352.3:c.181G>A NP_997235.3:p.Gly61Ser
XM_005262935.2:c.181G>A XP_005262992.1:p.Gly61Ser
XM_005262935.4:c.181G>A XP_005262992.1:p.Gly61Ser
XM_017008037.1:c.-130G>A XP_016863526.1:p.=
NM_207352.4:c.181G>A MANE Select NP_997235.3:p.Gly61Ser