Canonical Allele Identifier: CA2631006274
Gene: IFT140 HGNC NCBI

Linked Data

gnomAD v4: 16-1510804-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1510804G>T , CM000678.2:g.1510804G>T GRCh38
NC_000016.9:g.1560805G>T , CM000678.1:g.1560805G>T GRCh37
NC_000016.8:g.1500806G>T NCBI36
NG_032783.1:g.106305C>A
NG_050910.1:g.22461G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000426508.7:c.*140C>A MANE Select ENSP00000406012.2:n.*140C>A
ENST00000361339.9:c.*140C>A ENSP00000354895.5:n.*140C>A
ENST00000397417.6:c.*2967C>A ENSP00000380562.2:n.*2967C>A
ENST00000426508.6:c.*140C>A ENSP00000406012.2:n.*140C>A
ENST00000565298.5:n.4353C>A
NM_014714.3:c.*140C>A NP_055529.2:n.*140C>A
XM_006720989.2:c.*140C>A XP_006721052.1:n.*140C>A
XM_006720990.2:c.*140C>A XP_006721053.1:n.*140C>A
XM_006720991.2:c.*140C>A XP_006721054.1:n.*140C>A
XM_006720992.2:c.*140C>A XP_006721055.1:n.*140C>A
XM_011522766.1:c.*140C>A XP_011521068.1:n.*140C>A
XM_011522767.1:c.*140C>A XP_011521069.1:n.*140C>A
XM_006720990.3:c.*140C>A XP_006721053.1:n.*140C>A
XM_006720991.3:c.*140C>A XP_006721054.1:n.*140C>A
XM_006720992.3:c.*140C>A XP_006721055.1:n.*140C>A
XM_011522766.3:c.*140C>A XP_011521068.1:n.*140C>A
XM_011522767.2:c.*140C>A XP_011521069.1:n.*140C>A
XM_017023910.1:c.*140C>A XP_016879399.1:n.*140C>A
XM_017023911.1:c.*140C>A XP_016879400.1:n.*140C>A
NM_014714.4:c.*140C>A MANE Select NP_055529.2:n.*140C>A