Canonical Allele Identifier: CA358950283
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186208978G>A , CM000666.2:g.186208978G>A GRCh38
NC_000004.11:g.187130132G>A , CM000666.1:g.187130132G>A GRCh37
NC_000004.10:g.187367126G>A NCBI36
NG_007965.1:g.22459G>A
NG_012095.2:g.5000G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1204G>A MANE Select ENSP00000368079.4:p.Val402Ile
ENST00000378802.4:c.1204G>A ENSP00000368079.4:p.Val402Ile
ENST00000502665.1:n.439G>A
ENST00000507209.5:n.5902G>A
ENST00000513354.5:n.294G>A
NM_207352.3:c.1204G>A NP_997235.3:p.Val402Ile
XM_005262935.2:c.1204G>A XP_005262992.1:p.Val402Ile
XM_006714184.2:c.808G>A XP_006714247.1:p.Val270Ile
XM_005262935.4:c.1204G>A XP_005262992.1:p.Val402Ile
XM_017008037.1:c.808G>A XP_016863526.1:p.Val270Ile
NM_207352.4:c.1204G>A MANE Select NP_997235.3:p.Val402Ile