Canonical Allele Identifier: CA2631007139
Gene: IFT140 HGNC NCBI

Linked Data

gnomAD v4: 16-1511163-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1511163A>G , CM000678.2:g.1511163A>G GRCh38
NC_000016.9:g.1561164A>G , CM000678.1:g.1561164A>G GRCh37
NC_000016.8:g.1501165A>G NCBI36
NG_032783.1:g.105946T>C
NG_050910.1:g.22820A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000426508.7:c.4183-13T>C MANE Select ENSP00000406012.2:n.4183-13T>C
ENST00000361339.9:c.1765-13T>C ENSP00000354895.5:n.1765-13T>C
ENST00000397417.6:c.*2621-13T>C ENSP00000380562.2:n.*2621-13T>C
ENST00000426508.6:c.4183-13T>C ENSP00000406012.2:n.4183-13T>C
ENST00000565298.5:n.4007-13T>C
NM_014714.3:c.4183-13T>C NP_055529.2:n.4183-13T>C
XM_006720989.2:c.4183-13T>C XP_006721052.1:n.4183-13T>C
XM_006720990.2:c.4183-13T>C XP_006721053.1:n.4183-13T>C
XM_006720991.2:c.4183-13T>C XP_006721054.1:n.4183-13T>C
XM_006720992.2:c.1816-13T>C XP_006721055.1:n.1816-13T>C
XM_011522766.1:c.3937-13T>C XP_011521068.1:n.3937-13T>C
XM_011522767.1:c.3208-13T>C XP_011521069.1:n.3208-13T>C
XM_006720990.3:c.4183-13T>C XP_006721053.1:n.4183-13T>C
XM_006720991.3:c.4183-13T>C XP_006721054.1:n.4183-13T>C
XM_006720992.3:c.1816-13T>C XP_006721055.1:n.1816-13T>C
XM_011522766.3:c.3937-13T>C XP_011521068.1:n.3937-13T>C
XM_011522767.2:c.3208-13T>C XP_011521069.1:n.3208-13T>C
XM_017023910.1:c.4183-13T>C XP_016879399.1:n.4183-13T>C
XM_017023911.1:c.2368-13T>C XP_016879400.1:n.2368-13T>C
NM_014714.4:c.4183-13T>C MANE Select NP_055529.2:n.4183-13T>C