Canonical Allele Identifier: CA2695204081
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186199049dup , CM000666.2:g.186199049dup GRCh38
NC_000004.11:g.187120203dup , CM000666.1:g.187120203dup GRCh37
NC_000004.10:g.187357197dup NCBI36
NG_007965.1:g.12530dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.767dup MANE Select ENSP00000368079.4:p.Ser257GlufsTer15
ENST00000378802.4:c.767dup ENSP00000368079.4:p.Ser257GlufsTer15
ENST00000507209.5:n.1608dup
NM_207352.3:c.767dup NP_997235.3:p.Ser257GlufsTer15
XM_005262935.2:c.767dup XP_005262992.1:p.Ser257GlufsTer15
XM_006714184.2:c.371dup XP_006714247.1:p.Ser125GlufsTer15
XM_005262935.4:c.767dup XP_005262992.1:p.Ser257GlufsTer15
XM_017008037.1:c.371dup XP_016863526.1:p.Ser125GlufsTer15
NM_207352.4:c.767dup MANE Select NP_997235.3:p.Ser257GlufsTer15