Canonical Allele Identifier: CA394214639
Gene: IFT140 HGNC NCBI

Linked Data

gnomAD v4: 16-1584300-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1584300G>T , CM000678.2:g.1584300G>T GRCh38
NC_000016.9:g.1634301G>T , CM000678.1:g.1634301G>T GRCh37
NC_000016.8:g.1574302G>T NCBI36
NG_032783.1:g.32809C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426508.7:c.1276C>A MANE Select ENSP00000406012.2:p.Leu426Met
ENST00000397417.6:c.449C>A ENSP00000380562.2:p.Ser150Tyr
ENST00000426508.6:c.1276C>A ENSP00000406012.2:p.Leu426Met
ENST00000439987.6:n.1337C>A
NM_014714.3:c.1276C>A NP_055529.2:p.Leu426Met
XM_005255725.3:c.1276C>A XP_005255782.1:p.Leu426Met
XM_005255726.2:c.1276C>A XP_005255783.1:p.Leu426Met
XM_006720989.2:c.1276C>A XP_006721052.1:p.Leu426Met
XM_006720990.2:c.1276C>A XP_006721053.1:p.Leu426Met
XM_006720991.2:c.1276C>A XP_006721054.1:p.Leu426Met
XM_011522766.1:c.1276C>A XP_011521068.1:p.Leu426Met
XM_011522767.1:c.301C>A XP_011521069.1:p.Leu101Met
XM_011522768.1:c.1276C>A XP_011521070.1:p.Leu426Met
XM_011522769.1:c.1276C>A XP_011521071.1:p.Leu426Met
XM_011522771.1:c.1276C>A XP_011521073.1:p.Leu426Met
XM_011522772.1:c.1276C>A XP_011521074.1:p.Leu426Met
NR_135176.1:n.59+3715G>T
XM_005255725.5:c.1276C>A XP_005255782.1:p.Leu426Met
XM_005255726.4:c.1276C>A XP_005255783.1:p.Leu426Met
XM_006720990.3:c.1276C>A XP_006721053.1:p.Leu426Met
XM_006720991.3:c.1276C>A XP_006721054.1:p.Leu426Met
XM_011522766.3:c.1276C>A XP_011521068.1:p.Leu426Met
XM_011522767.2:c.301C>A XP_011521069.1:p.Leu101Met
XM_011522769.3:c.1276C>A XP_011521071.1:p.Leu426Met
XM_011522771.3:c.1276C>A XP_011521073.1:p.Leu426Met
XM_011522772.3:c.1276C>A XP_011521074.1:p.Leu426Met
XM_017023910.1:c.1276C>A XP_016879399.1:p.Leu426Met
XM_017023911.1:c.-422C>A XP_016879400.1:n.-422C>A
NM_014714.4:c.1276C>A MANE Select NP_055529.2:p.Leu426Met