Canonical Allele Identifier: CA2201718069
Gene: IFT140 HGNC NCBI
TELO2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1510457A= , CM000678.2:g.1510457A= GRCh38
NC_000016.9:g.1560458A= , CM000678.1:g.1560458A= GRCh37
NC_000016.8:g.1500459A= NCBI36
NG_032783.1:g.106652T=
NG_050910.1:g.22114A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426508.7:c.*487T= (IFT140) MANE Select ENSP00000406012.2:n.*487T=
ENST00000262319.10:c.*521A= (TELO2) ENSP00000262319.6:n.*521A=
ENST00000361339.9:c.*487T= (IFT140) ENSP00000354895.5:n.*487T=
ENST00000397417.6:c.*3314T= (IFT140) ENSP00000380562.2:n.*3314T=
ENST00000426508.6:c.*487T= (IFT140) ENSP00000406012.2:n.*487T=
ENST00000565298.5:n.4700T= (IFT140)
ENST00000568240.1:n.1327A= (TELO2)
NM_014714.3:c.*487T= (IFT140) NP_055529.2:n.*487T=
NM_016111.3:c.*521A= (TELO2) NP_057195.2:n.*521A=
XM_006720989.2:c.*487T= (IFT140) XP_006721052.1:n.*487T=
XM_006720990.2:c.*487T= (IFT140) XP_006721053.1:n.*487T=
XM_006720991.2:c.*487T= (IFT140) XP_006721054.1:n.*487T=
XM_006720992.2:c.*487T= (IFT140) XP_006721055.1:n.*487T=
XM_011522766.1:c.*487T= (IFT140) XP_011521068.1:n.*487T=
XM_011522767.1:c.*487T= (IFT140) XP_011521069.1:n.*487T=
NM_001351846.1:c.*521A= (TELO2) NP_001338775.1:n.*521A=
XM_006720990.3:c.*487T= (IFT140) XP_006721053.1:n.*487T=
XM_006720991.3:c.*487T= (IFT140) XP_006721054.1:n.*487T=
XM_006720992.3:c.*487T= (IFT140) XP_006721055.1:n.*487T=
XM_011522766.3:c.*487T= (IFT140) XP_011521068.1:n.*487T=
XM_011522767.2:c.*487T= (IFT140) XP_011521069.1:n.*487T=
XM_011522773.3:c.*521A= (TELO2) XP_011521075.1:n.*521A=
XM_011522774.2:c.*521A= (TELO2) XP_011521076.1:n.*521A=
XM_011522775.3:c.*521A= (TELO2) XP_011521077.1:n.*521A=
XM_011522776.2:c.*521A= (TELO2) XP_011521078.1:n.*521A=
XM_017023910.1:c.*487T= (IFT140) XP_016879399.1:n.*487T=
XM_017023911.1:c.*487T= (IFT140) XP_016879400.1:n.*487T=
XR_001752042.2:n.3567A= (TELO2)
XR_001752043.2:n.3082A= (TELO2)
XR_001752044.2:n.3019A= (TELO2)
XR_932982.3:n.3112A= (TELO2)
NM_014714.4:c.*487T= (IFT140) MANE Select NP_055529.2:n.*487T=