Canonical Allele Identifier: CA442639317
Gene: CYP4V2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.187120174T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186199020T>A , CM000666.2:g.186199020T>A GRCh38
NC_000004.11:g.187120174T>A , CM000666.1:g.187120174T>A GRCh37
NC_000004.10:g.187357168T>A NCBI36
NG_007965.1:g.12501T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.738T>A MANE Select ENSP00000368079.4:p.Leu246=
ENST00000378802.4:c.738T>A ENSP00000368079.4:p.Leu246=
ENST00000507209.5:n.1579T>A
NM_207352.3:c.738T>A NP_997235.3:p.Leu246=
XM_005262935.2:c.738T>A XP_005262992.1:p.Leu246=
XM_006714184.2:c.342T>A XP_006714247.1:p.Leu114=
XM_005262935.4:c.738T>A XP_005262992.1:p.Leu246=
XM_017008037.1:c.342T>A XP_016863526.1:p.Leu114=
NM_207352.4:c.738T>A MANE Select NP_997235.3:p.Leu246=