Canonical Allele Identifier: CA1394216729
Gene: CFAP44 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.113327793A= , CM000665.2:g.113327793A= GRCh38
NC_000003.11:g.113046640A= , CM000665.1:g.113046640A= GRCh37
NC_000003.10:g.114529330A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000393845.9:c.4143T= MANE Select ENSP00000377428.2:p.Asp1381=
ENST00000393845.6:c.4143T= ENSP00000377428.2:p.Asp1381=
ENST00000461734.1:c.5T=
ENST00000465636.5:c.1552T=
NM_001164496.1:c.4143T= NP_001157968.1:p.Asp1381=
XM_005247617.2:c.1848T= XP_005247674.1:p.Asp616=
XM_006713696.1:c.4275T= XP_006713759.1:p.Asp1425=
XM_006713697.1:c.4122T= XP_006713760.1:p.Asp1374=
XM_011512975.1:c.4275T= XP_011511277.1:p.Asp1425=
XM_011512976.1:c.4143T= XP_011511278.1:p.Asp1381=
XM_011512977.1:c.3903T= XP_011511279.1:p.Asp1301=
XM_011512978.1:c.3594T= XP_011511280.1:p.Asp1198=
XM_011512979.1:c.3243T= XP_011511281.1:p.Asp1081=
XR_427370.1:n.4800T=
XR_427371.2:n.4800T=
NM_001164496.2:c.4143T= MANE Select NP_001157968.1:p.Asp1381=