Canonical Allele Identifier: CA645540554
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186197097dup , CM000666.2:g.186197097dup GRCh38
NC_000004.11:g.187118251dup , CM000666.1:g.187118251dup GRCh37
NC_000004.10:g.187355245dup NCBI36
NG_007965.1:g.10578dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.571dup MANE Select ENSP00000368079.4:p.Tyr191LeufsTer12
ENST00000378802.4:c.571dup ENSP00000368079.4:p.Tyr191LeufsTer12
ENST00000507209.5:n.1010dup
NM_207352.3:c.571dup NP_997235.3:p.Tyr191LeufsTer12
XM_005262935.2:c.571dup XP_005262992.1:p.Tyr191LeufsTer12
XM_006714184.2:c.175dup XP_006714247.1:p.Tyr59LeufsTer12
XM_005262935.4:c.571dup XP_005262992.1:p.Tyr191LeufsTer12
XM_017008037.1:c.175dup XP_016863526.1:p.Tyr59LeufsTer12
NM_207352.4:c.571dup MANE Select NP_997235.3:p.Tyr191LeufsTer12