Canonical Allele Identifier: CA394222586
Gene: IFT140 HGNC NCBI

Linked Data

gnomAD v4: 16-1511149-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1511149G>T , CM000678.2:g.1511149G>T GRCh38
NC_000016.9:g.1561150G>T , CM000678.1:g.1561150G>T GRCh37
NC_000016.8:g.1501151G>T NCBI36
NG_032783.1:g.105960C>A
NG_050910.1:g.22806G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426508.7:c.4184C>A MANE Select ENSP00000406012.2:p.Ala1395Asp
ENST00000361339.9:c.1766C>A ENSP00000354895.5:p.Ala589Asp
ENST00000397417.6:c.*2622C>A ENSP00000380562.2:n.*2622C>A
ENST00000426508.6:c.4184C>A ENSP00000406012.2:p.Ala1395Asp
ENST00000565298.5:n.4008C>A
NM_014714.3:c.4184C>A NP_055529.2:p.Ala1395Asp
XM_006720989.2:c.4184C>A XP_006721052.1:p.Ala1395Asp
XM_006720990.2:c.4184C>A XP_006721053.1:p.Ala1395Asp
XM_006720991.2:c.4184C>A XP_006721054.1:p.Ala1395Asp
XM_006720992.2:c.1817C>A XP_006721055.1:p.Ala606Asp
XM_011522766.1:c.3938C>A XP_011521068.1:p.Ala1313Asp
XM_011522767.1:c.3209C>A XP_011521069.1:p.Ala1070Asp
XM_006720990.3:c.4184C>A XP_006721053.1:p.Ala1395Asp
XM_006720991.3:c.4184C>A XP_006721054.1:p.Ala1395Asp
XM_006720992.3:c.1817C>A XP_006721055.1:p.Ala606Asp
XM_011522766.3:c.3938C>A XP_011521068.1:p.Ala1313Asp
XM_011522767.2:c.3209C>A XP_011521069.1:p.Ala1070Asp
XM_017023910.1:c.4184C>A XP_016879399.1:p.Ala1395Asp
XM_017023911.1:c.2369C>A XP_016879400.1:p.Ala790Asp
NM_014714.4:c.4184C>A MANE Select NP_055529.2:p.Ala1395Asp