Canonical Allele Identifier: CA3162644
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 902285
dbSNP Id: rs761190623

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186199054C>A , CM000666.2:g.186199054C>A GRCh38
NC_000004.11:g.187120208C>A , CM000666.1:g.187120208C>A GRCh37
NC_000004.10:g.187357202C>A NCBI36
NG_007965.1:g.12535C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.772C>A MANE Select ENSP00000368079.4:p.Leu258Ile
ENST00000378802.4:c.772C>A ENSP00000368079.4:p.Leu258Ile
ENST00000507209.5:n.1613C>A
NM_207352.3:c.772C>A NP_997235.3:p.Leu258Ile
XM_005262935.2:c.772C>A XP_005262992.1:p.Leu258Ile
XM_006714184.2:c.376C>A XP_006714247.1:p.Leu126Ile
XM_005262935.4:c.772C>A XP_005262992.1:p.Leu258Ile
XM_017008037.1:c.376C>A XP_016863526.1:p.Leu126Ile
NM_207352.4:c.772C>A MANE Select NP_997235.3:p.Leu258Ile