Canonical Allele Identifier: CA394222203
Gene: IFT140 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1510960G>T , CM000678.2:g.1510960G>T GRCh38
NC_000016.9:g.1560961G>T , CM000678.1:g.1560961G>T GRCh37
NC_000016.8:g.1500962G>T NCBI36
NG_032783.1:g.106149C>A
NG_050910.1:g.22617G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426508.7:c.4373C>A MANE Select ENSP00000406012.2:p.Ala1458Glu
ENST00000361339.9:c.1955C>A ENSP00000354895.5:p.Ala652Glu
ENST00000397417.6:c.*2811C>A ENSP00000380562.2:n.*2811C>A
ENST00000426508.6:c.4373C>A ENSP00000406012.2:p.Ala1458Glu
ENST00000565298.5:n.4197C>A
NM_014714.3:c.4373C>A NP_055529.2:p.Ala1458Glu
XM_006720989.2:c.4373C>A XP_006721052.1:p.Ala1458Glu
XM_006720990.2:c.4373C>A XP_006721053.1:p.Ala1458Glu
XM_006720991.2:c.4373C>A XP_006721054.1:p.Ala1458Glu
XM_006720992.2:c.2006C>A XP_006721055.1:p.Ala669Glu
XM_011522766.1:c.4127C>A XP_011521068.1:p.Ala1376Glu
XM_011522767.1:c.3398C>A XP_011521069.1:p.Ala1133Glu
XM_006720990.3:c.4373C>A XP_006721053.1:p.Ala1458Glu
XM_006720991.3:c.4373C>A XP_006721054.1:p.Ala1458Glu
XM_006720992.3:c.2006C>A XP_006721055.1:p.Ala669Glu
XM_011522766.3:c.4127C>A XP_011521068.1:p.Ala1376Glu
XM_011522767.2:c.3398C>A XP_011521069.1:p.Ala1133Glu
XM_017023910.1:c.4373C>A XP_016879399.1:p.Ala1458Glu
XM_017023911.1:c.2558C>A XP_016879400.1:p.Ala853Glu
NM_014714.4:c.4373C>A MANE Select NP_055529.2:p.Ala1458Glu