Canonical Allele Identifier: CA620700851
Gene: IFT140 HGNC NCBI

Linked Data

dbSNP Id: rs1216991665
gnomAD v2: 16-1560709-T-C
gnomAD v3: 16-1510708-T-C
gnomAD v4: 16-1510708-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1510708T>C , CM000678.2:g.1510708T>C GRCh38
NC_000016.9:g.1560709T>C , CM000678.1:g.1560709T>C GRCh37
NC_000016.8:g.1500710T>C NCBI36
NG_032783.1:g.106401A>G
NG_050910.1:g.22365T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000426508.7:c.*236A>G MANE Select ENSP00000406012.2:n.*236A>G
ENST00000361339.9:c.*236A>G ENSP00000354895.5:n.*236A>G
ENST00000397417.6:c.*3063A>G ENSP00000380562.2:n.*3063A>G
ENST00000426508.6:c.*236A>G ENSP00000406012.2:n.*236A>G
ENST00000565298.5:n.4449A>G
NM_014714.3:c.*236A>G NP_055529.2:n.*236A>G
XM_006720989.2:c.*236A>G XP_006721052.1:n.*236A>G
XM_006720990.2:c.*236A>G XP_006721053.1:n.*236A>G
XM_006720991.2:c.*236A>G XP_006721054.1:n.*236A>G
XM_006720992.2:c.*236A>G XP_006721055.1:n.*236A>G
XM_011522766.1:c.*236A>G XP_011521068.1:n.*236A>G
XM_011522767.1:c.*236A>G XP_011521069.1:n.*236A>G
XM_006720990.3:c.*236A>G XP_006721053.1:n.*236A>G
XM_006720991.3:c.*236A>G XP_006721054.1:n.*236A>G
XM_006720992.3:c.*236A>G XP_006721055.1:n.*236A>G
XM_011522766.3:c.*236A>G XP_011521068.1:n.*236A>G
XM_011522767.2:c.*236A>G XP_011521069.1:n.*236A>G
XM_017023910.1:c.*236A>G XP_016879399.1:n.*236A>G
XM_017023911.1:c.*236A>G XP_016879400.1:n.*236A>G
NM_014714.4:c.*236A>G MANE Select NP_055529.2:n.*236A>G