Canonical Allele Identifier: CA358947030
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186194611A>T , CM000666.2:g.186194611A>T GRCh38
NC_000004.11:g.187115765A>T , CM000666.1:g.187115765A>T GRCh37
NC_000004.10:g.187352759A>T NCBI36
NG_007965.1:g.8092A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.326A>T MANE Select ENSP00000368079.4:p.Glu109Val
ENST00000378802.4:c.326A>T ENSP00000368079.4:p.Glu109Val
NM_207352.3:c.326A>T NP_997235.3:p.Glu109Val
XM_005262935.2:c.326A>T XP_005262992.1:p.Glu109Val
XM_006714184.2:c.16A>T XP_006714247.1:p.Ser6Cys
XM_005262935.4:c.326A>T XP_005262992.1:p.Glu109Val
XM_017008037.1:c.16A>T XP_016863526.1:p.Ser6Cys
NM_207352.4:c.326A>T MANE Select NP_997235.3:p.Glu109Val