Canonical Allele Identifier: CA7813042
Gene: IFT140 HGNC NCBI

Linked Data

ClinVar Variation Id: 317998
dbSNP Id: rs79494390

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1520261A>G , CM000678.2:g.1520261A>G GRCh38
NC_000016.9:g.1570262A>G , CM000678.1:g.1570262A>G GRCh37
NC_000016.8:g.1510263A>G NCBI36
NG_032783.1:g.96848T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000426508.7:c.3743T>C MANE Select ENSP00000406012.2:p.Ile1248Thr
ENST00000361339.9:c.1325T>C ENSP00000354895.5:p.Ile442Thr
ENST00000397417.6:c.*2181T>C ENSP00000380562.2:p.=
ENST00000426508.6:c.3743T>C ENSP00000406012.2:p.Ile1248Thr
ENST00000565298.5:n.3567T>C
NM_014714.3:c.3743T>C NP_055529.2:p.Ile1248Thr
XM_006720989.2:c.3743T>C XP_006721052.1:p.Ile1248Thr
XM_006720990.2:c.3743T>C XP_006721053.1:p.Ile1248Thr
XM_006720991.2:c.3743T>C XP_006721054.1:p.Ile1248Thr
XM_006720992.2:c.1376T>C XP_006721055.1:p.Ile459Thr
XM_011522766.1:c.3497T>C XP_011521068.1:p.Ile1166Thr
XM_011522767.1:c.2768T>C XP_011521069.1:p.Ile923Thr
XM_006720990.3:c.3743T>C XP_006721053.1:p.Ile1248Thr
XM_006720991.3:c.3743T>C XP_006721054.1:p.Ile1248Thr
XM_006720992.3:c.1376T>C XP_006721055.1:p.Ile459Thr
XM_011522766.3:c.3497T>C XP_011521068.1:p.Ile1166Thr
XM_011522767.2:c.2768T>C XP_011521069.1:p.Ile923Thr
XM_017023910.1:c.3743T>C XP_016879399.1:p.Ile1248Thr
XM_017023911.1:c.1928T>C XP_016879400.1:p.Ile643Thr
NM_014714.4:c.3743T>C MANE Select NP_055529.2:p.Ile1248Thr