Canonical Allele Identifier: CA7814373
Gene: IFT140 HGNC NCBI

Linked Data

ClinVar Variation Id: 886296
dbSNP Id: rs373106880
gnomAD v2: 16-1634268-C-T
gnomAD v3: 16-1584267-C-T
gnomAD v4: 16-1584267-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1584267C>T , CM000678.2:g.1584267C>T GRCh38
NC_000016.9:g.1634268C>T , CM000678.1:g.1634268C>T GRCh37
NC_000016.8:g.1574269C>T NCBI36
NG_032783.1:g.32842G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426508.7:c.1309G>A MANE Select ENSP00000406012.2:p.Ala437Thr
ENST00000397417.6:c.482G>A ENSP00000380562.2:p.Arg161His
ENST00000426508.6:c.1309G>A ENSP00000406012.2:p.Ala437Thr
ENST00000439987.6:n.1370G>A
NM_014714.3:c.1309G>A NP_055529.2:p.Ala437Thr
XM_005255725.3:c.1309G>A XP_005255782.1:p.Ala437Thr
XM_005255726.2:c.1309G>A XP_005255783.1:p.Ala437Thr
XM_006720989.2:c.1309G>A XP_006721052.1:p.Ala437Thr
XM_006720990.2:c.1309G>A XP_006721053.1:p.Ala437Thr
XM_006720991.2:c.1309G>A XP_006721054.1:p.Ala437Thr
XM_011522766.1:c.1309G>A XP_011521068.1:p.Ala437Thr
XM_011522767.1:c.334G>A XP_011521069.1:p.Ala112Thr
XM_011522768.1:c.1309G>A XP_011521070.1:p.Ala437Thr
XM_011522769.1:c.1309G>A XP_011521071.1:p.Ala437Thr
XM_011522771.1:c.1309G>A XP_011521073.1:p.Ala437Thr
XM_011522772.1:c.1309G>A XP_011521074.1:p.Ala437Thr
NR_135176.1:n.59+3682C>T
XM_005255725.5:c.1309G>A XP_005255782.1:p.Ala437Thr
XM_005255726.4:c.1309G>A XP_005255783.1:p.Ala437Thr
XM_006720990.3:c.1309G>A XP_006721053.1:p.Ala437Thr
XM_006720991.3:c.1309G>A XP_006721054.1:p.Ala437Thr
XM_011522766.3:c.1309G>A XP_011521068.1:p.Ala437Thr
XM_011522767.2:c.334G>A XP_011521069.1:p.Ala112Thr
XM_011522769.3:c.1309G>A XP_011521071.1:p.Ala437Thr
XM_011522771.3:c.1309G>A XP_011521073.1:p.Ala437Thr
XM_011522772.3:c.1309G>A XP_011521074.1:p.Ala437Thr
XM_017023910.1:c.1309G>A XP_016879399.1:p.Ala437Thr
XM_017023911.1:c.-389G>A XP_016879400.1:n.-389G>A
NM_014714.4:c.1309G>A MANE Select NP_055529.2:p.Ala437Thr