Canonical Allele Identifier: CA492927698
Gene: IFT140 HGNC NCBI

Linked Data

dbSNP Id: rs1238868137
gnomAD v4: 16-1584256-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1584256C>T , CM000678.2:g.1584256C>T GRCh38
NC_000016.9:g.1634257C>T , CM000678.1:g.1634257C>T GRCh37
NC_000016.8:g.1574258C>T NCBI36
NG_032783.1:g.32853G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426508.7:c.1320G>A MANE Select ENSP00000406012.2:p.Leu440=
ENST00000397417.6:c.493G>A ENSP00000380562.2:p.Ala165Thr
ENST00000426508.6:c.1320G>A ENSP00000406012.2:p.Leu440=
ENST00000439987.6:n.1381G>A
ENST00000565298.5:n.8G>A
NM_014714.3:c.1320G>A NP_055529.2:p.Leu440=
XM_005255725.3:c.1320G>A XP_005255782.1:p.Leu440=
XM_005255726.2:c.1320G>A XP_005255783.1:p.Leu440=
XM_006720989.2:c.1320G>A XP_006721052.1:p.Leu440=
XM_006720990.2:c.1320G>A XP_006721053.1:p.Leu440=
XM_006720991.2:c.1320G>A XP_006721054.1:p.Leu440=
XM_011522766.1:c.1320G>A XP_011521068.1:p.Leu440=
XM_011522767.1:c.345G>A XP_011521069.1:p.Leu115=
XM_011522768.1:c.1320G>A XP_011521070.1:p.Leu440=
XM_011522769.1:c.1320G>A XP_011521071.1:p.Leu440=
XM_011522771.1:c.1320G>A XP_011521073.1:p.Leu440=
XM_011522772.1:c.1320G>A XP_011521074.1:p.Leu440=
NR_135176.1:n.59+3671C>T
XM_005255725.5:c.1320G>A XP_005255782.1:p.Leu440=
XM_005255726.4:c.1320G>A XP_005255783.1:p.Leu440=
XM_006720990.3:c.1320G>A XP_006721053.1:p.Leu440=
XM_006720991.3:c.1320G>A XP_006721054.1:p.Leu440=
XM_011522766.3:c.1320G>A XP_011521068.1:p.Leu440=
XM_011522767.2:c.345G>A XP_011521069.1:p.Leu115=
XM_011522769.3:c.1320G>A XP_011521071.1:p.Leu440=
XM_011522771.3:c.1320G>A XP_011521073.1:p.Leu440=
XM_011522772.3:c.1320G>A XP_011521074.1:p.Leu440=
XM_017023910.1:c.1320G>A XP_016879399.1:p.Leu440=
XM_017023911.1:c.-378G>A XP_016879400.1:n.-378G>A
NM_014714.4:c.1320G>A MANE Select NP_055529.2:p.Leu440=