Canonical Allele Identifier: CA7812829
Gene: IFT140 HGNC NCBI

Linked Data

ClinVar Variation Id: 499715
dbSNP Id: rs113216558
gnomAD v2: 16-1561126-C-T
gnomAD v3: 16-1511125-C-T
gnomAD v4: 16-1511125-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1511125C>T , CM000678.2:g.1511125C>T GRCh38
NC_000016.9:g.1561126C>T , CM000678.1:g.1561126C>T GRCh37
NC_000016.8:g.1501127C>T NCBI36
NG_032783.1:g.105984G>A
NG_050910.1:g.22782C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426508.7:c.4208G>A MANE Select ENSP00000406012.2:p.Arg1403Gln
ENST00000361339.9:c.1790G>A ENSP00000354895.5:p.Arg597Gln
ENST00000397417.6:c.*2646G>A ENSP00000380562.2:n.*2646G>A
ENST00000426508.6:c.4208G>A ENSP00000406012.2:p.Arg1403Gln
ENST00000565298.5:n.4032G>A
NM_014714.3:c.4208G>A NP_055529.2:p.Arg1403Gln
XM_006720989.2:c.4208G>A XP_006721052.1:p.Arg1403Gln
XM_006720990.2:c.4208G>A XP_006721053.1:p.Arg1403Gln
XM_006720991.2:c.4208G>A XP_006721054.1:p.Arg1403Gln
XM_006720992.2:c.1841G>A XP_006721055.1:p.Arg614Gln
XM_011522766.1:c.3962G>A XP_011521068.1:p.Arg1321Gln
XM_011522767.1:c.3233G>A XP_011521069.1:p.Arg1078Gln
XM_006720990.3:c.4208G>A XP_006721053.1:p.Arg1403Gln
XM_006720991.3:c.4208G>A XP_006721054.1:p.Arg1403Gln
XM_006720992.3:c.1841G>A XP_006721055.1:p.Arg614Gln
XM_011522766.3:c.3962G>A XP_011521068.1:p.Arg1321Gln
XM_011522767.2:c.3233G>A XP_011521069.1:p.Arg1078Gln
XM_017023910.1:c.4208G>A XP_016879399.1:p.Arg1403Gln
XM_017023911.1:c.2393G>A XP_016879400.1:p.Arg798Gln
NM_014714.4:c.4208G>A MANE Select NP_055529.2:p.Arg1403Gln