Canonical Allele Identifier: CA394218750
Gene: IFT140 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1589724T>A , CM000678.2:g.1589724T>A GRCh38
NC_000016.9:g.1639725T>A , CM000678.1:g.1639725T>A GRCh37
NC_000016.8:g.1579726T>A NCBI36
NG_032783.1:g.27385A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426508.7:c.691A>T MANE Select ENSP00000406012.2:p.Ser231Cys
ENST00000397417.6:c.329-5304A>T ENSP00000380562.2:n.329-5304A>T
ENST00000426508.6:c.691A>T ENSP00000406012.2:p.Ser231Cys
ENST00000439987.6:n.752A>T
NM_014714.3:c.691A>T NP_055529.2:p.Ser231Cys
XM_005255725.3:c.691A>T XP_005255782.1:p.Ser231Cys
XM_005255726.2:c.691A>T XP_005255783.1:p.Ser231Cys
XM_006720989.2:c.691A>T XP_006721052.1:p.Ser231Cys
XM_006720990.2:c.691A>T XP_006721053.1:p.Ser231Cys
XM_006720991.2:c.691A>T XP_006721054.1:p.Ser231Cys
XM_011522766.1:c.691A>T XP_011521068.1:p.Ser231Cys
XM_011522768.1:c.691A>T XP_011521070.1:p.Ser231Cys
XM_011522769.1:c.691A>T XP_011521071.1:p.Ser231Cys
XM_011522771.1:c.691A>T XP_011521073.1:p.Ser231Cys
XM_011522772.1:c.691A>T XP_011521074.1:p.Ser231Cys
NR_135176.1:n.59+9139T>A
XM_005255725.5:c.691A>T XP_005255782.1:p.Ser231Cys
XM_005255726.4:c.691A>T XP_005255783.1:p.Ser231Cys
XM_006720990.3:c.691A>T XP_006721053.1:p.Ser231Cys
XM_006720991.3:c.691A>T XP_006721054.1:p.Ser231Cys
XM_011522766.3:c.691A>T XP_011521068.1:p.Ser231Cys
XM_011522769.3:c.691A>T XP_011521071.1:p.Ser231Cys
XM_011522771.3:c.691A>T XP_011521073.1:p.Ser231Cys
XM_011522772.3:c.691A>T XP_011521074.1:p.Ser231Cys
XM_017023910.1:c.691A>T XP_016879399.1:p.Ser231Cys
XM_017023911.1:c.-1007A>T XP_016879400.1:n.-1007A>T
NM_014714.4:c.691A>T MANE Select NP_055529.2:p.Ser231Cys