Canonical Allele Identifier: CA3162833
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 348312
dbSNP Id: rs35524919

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209205C>G , CM000666.2:g.186209205C>G GRCh38
NC_000004.11:g.187130359C>G , CM000666.1:g.187130359C>G GRCh37
NC_000004.10:g.187367353C>G NCBI36
NG_007965.1:g.22686C>G
NG_012095.2:g.5227C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1338C>G MANE Select ENSP00000368079.4:p.Pro446=
ENST00000378802.4:c.1338C>G ENSP00000368079.4:p.Pro446=
ENST00000502665.1:n.573C>G
ENST00000507209.5:n.6036C>G
ENST00000511608.5:n.134C>G
ENST00000513354.5:n.428C>G
NM_207352.3:c.1338C>G NP_997235.3:p.Pro446=
XM_005262935.2:c.1335C>G XP_005262992.1:p.Pro445=
XM_006714184.2:c.942C>G XP_006714247.1:p.Pro314=
XM_005262935.4:c.1335C>G XP_005262992.1:p.Pro445=
XM_017008037.1:c.942C>G XP_016863526.1:p.Pro314=
NM_207352.4:c.1338C>G MANE Select NP_997235.3:p.Pro446=