Canonical Allele Identifier: CA7813339

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1524633G>C , CM000678.2:g.1524633G>C	GRCh38
NC_000016.9:g.1574634G>C , CM000678.1:g.1574634G>C	GRCh37
NC_000016.8:g.1514635G>C	NCBI36
NG_032783.1:g.92476C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014714.4:c.3060C>G MANE Select	NP_055529.2:p.Tyr1020Ter
ENST00000426508.7:c.3060C>G MANE Select	ENSP00000406012.2:p.Tyr1020Ter
NM_014714.3:c.3060C>G	NP_055529.2:p.Tyr1020Ter
ENST00000361339.9:c.642C>G	ENSP00000354895.5:p.Tyr214Ter
ENST00000397417.6:c.*1498C>G	ENSP00000380562.2:n.*1498C>G
ENST00000426508.6:c.3060C>G	ENSP00000406012.2:p.Tyr1020Ter
ENST00000565298.5:n.2289C>G
XM_006720989.2:c.3060C>G	XP_006721052.1:p.Tyr1020Ter
XM_006720990.2:c.3060C>G	XP_006721053.1:p.Tyr1020Ter
XM_006720990.3:c.3060C>G	XP_006721053.1:p.Tyr1020Ter
XM_006720991.2:c.3060C>G	XP_006721054.1:p.Tyr1020Ter
XM_006720991.3:c.3060C>G	XP_006721054.1:p.Tyr1020Ter
XM_006720992.2:c.693C>G	XP_006721055.1:p.Tyr231Ter
XM_006720992.3:c.693C>G	XP_006721055.1:p.Tyr231Ter
XM_011522766.1:c.2814C>G	XP_011521068.1:p.Tyr938Ter
XM_011522766.3:c.2814C>G	XP_011521068.1:p.Tyr938Ter
XM_011522767.1:c.2085C>G	XP_011521069.1:p.Tyr695Ter
XM_011522767.2:c.2085C>G	XP_011521069.1:p.Tyr695Ter
XM_017023910.1:c.3060C>G	XP_016879399.1:p.Tyr1020Ter
XM_017023911.1:c.1245C>G	XP_016879400.1:p.Tyr415Ter