Canonical Allele Identifier: CA1139664229
Gene: IFT140 HGNC NCBI

Linked Data

ClinVar Variation Id: 885376
ClinVar RCV Id: RCV001116945
dbSNP Id: rs2040116815
gnomAD v4: 16-1510853-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1510853C>A , CM000678.2:g.1510853C>A GRCh38
NC_000016.9:g.1560854C>A , CM000678.1:g.1560854C>A GRCh37
NC_000016.8:g.1500855C>A NCBI36
NG_032783.1:g.106256G>T
NG_050910.1:g.22510C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426508.7:c.*91G>T MANE Select ENSP00000406012.2:n.*91G>T
ENST00000361339.9:c.*91G>T ENSP00000354895.5:n.*91G>T
ENST00000397417.6:c.*2918G>T ENSP00000380562.2:n.*2918G>T
ENST00000426508.6:c.*91G>T ENSP00000406012.2:n.*91G>T
ENST00000565298.5:n.4304G>T
NM_014714.3:c.*91G>T NP_055529.2:n.*91G>T
XM_006720989.2:c.*91G>T XP_006721052.1:n.*91G>T
XM_006720990.2:c.*91G>T XP_006721053.1:n.*91G>T
XM_006720991.2:c.*91G>T XP_006721054.1:n.*91G>T
XM_006720992.2:c.*91G>T XP_006721055.1:n.*91G>T
XM_011522766.1:c.*91G>T XP_011521068.1:n.*91G>T
XM_011522767.1:c.*91G>T XP_011521069.1:n.*91G>T
XM_006720990.3:c.*91G>T XP_006721053.1:n.*91G>T
XM_006720991.3:c.*91G>T XP_006721054.1:n.*91G>T
XM_006720992.3:c.*91G>T XP_006721055.1:n.*91G>T
XM_011522766.3:c.*91G>T XP_011521068.1:n.*91G>T
XM_011522767.2:c.*91G>T XP_011521069.1:n.*91G>T
XM_017023910.1:c.*91G>T XP_016879399.1:n.*91G>T
XM_017023911.1:c.*91G>T XP_016879400.1:n.*91G>T
NM_014714.4:c.*91G>T MANE Select NP_055529.2:n.*91G>T