Canonical Allele Identifier: CA394225968

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1524623C>A , CM000678.2:g.1524623C>A	GRCh38
NC_000016.9:g.1574624C>A , CM000678.1:g.1574624C>A	GRCh37
NC_000016.8:g.1514625C>A	NCBI36
NG_032783.1:g.92486G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014714.4:c.3070G>T MANE Select	NP_055529.2:p.Glu1024Ter
ENST00000426508.7:c.3070G>T MANE Select	ENSP00000406012.2:p.Glu1024Ter
NM_014714.3:c.3070G>T	NP_055529.2:p.Glu1024Ter
ENST00000361339.9:c.652G>T	ENSP00000354895.5:p.Glu218Ter
ENST00000397417.6:c.*1508G>T	ENSP00000380562.2:n.*1508G>T
ENST00000426508.6:c.3070G>T	ENSP00000406012.2:p.Glu1024Ter
ENST00000565298.5:n.2299G>T
XM_006720989.2:c.3070G>T	XP_006721052.1:p.Glu1024Ter
XM_006720990.2:c.3070G>T	XP_006721053.1:p.Glu1024Ter
XM_006720990.3:c.3070G>T	XP_006721053.1:p.Glu1024Ter
XM_006720991.2:c.3070G>T	XP_006721054.1:p.Glu1024Ter
XM_006720991.3:c.3070G>T	XP_006721054.1:p.Glu1024Ter
XM_006720992.2:c.703G>T	XP_006721055.1:p.Glu235Ter
XM_006720992.3:c.703G>T	XP_006721055.1:p.Glu235Ter
XM_011522766.1:c.2824G>T	XP_011521068.1:p.Glu942Ter
XM_011522766.3:c.2824G>T	XP_011521068.1:p.Glu942Ter
XM_011522767.1:c.2095G>T	XP_011521069.1:p.Glu699Ter
XM_011522767.2:c.2095G>T	XP_011521069.1:p.Glu699Ter
XM_017023910.1:c.3070G>T	XP_016879399.1:p.Glu1024Ter
XM_017023911.1:c.1255G>T	XP_016879400.1:p.Glu419Ter