Canonical Allele Identifier: CA2201718458

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511144T= , CM000678.2:g.1511144T=	GRCh38
NC_000016.9:g.1561145T= , CM000678.1:g.1561145T=	GRCh37
NC_000016.8:g.1501146T=	NCBI36
NG_032783.1:g.105965A=
NG_050910.1:g.22801T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4189A= MANE Select	ENSP00000406012.2:p.Arg1397=
ENST00000361339.9:c.1771A=	ENSP00000354895.5:p.Arg591=
ENST00000397417.6:c.*2627A=	ENSP00000380562.2:n.*2627A=
ENST00000426508.6:c.4189A=	ENSP00000406012.2:p.Arg1397=
ENST00000565298.5:n.4013A=
NM_014714.3:c.4189A=	NP_055529.2:p.Arg1397=
XM_006720989.2:c.4189A=	XP_006721052.1:p.Arg1397=
XM_006720990.2:c.4189A=	XP_006721053.1:p.Arg1397=
XM_006720991.2:c.4189A=	XP_006721054.1:p.Arg1397=
XM_006720992.2:c.1822A=	XP_006721055.1:p.Arg608=
XM_011522766.1:c.3943A=	XP_011521068.1:p.Arg1315=
XM_011522767.1:c.3214A=	XP_011521069.1:p.Arg1072=
XM_006720990.3:c.4189A=	XP_006721053.1:p.Arg1397=
XM_006720991.3:c.4189A=	XP_006721054.1:p.Arg1397=
XM_006720992.3:c.1822A=	XP_006721055.1:p.Arg608=
XM_011522766.3:c.3943A=	XP_011521068.1:p.Arg1315=
XM_011522767.2:c.3214A=	XP_011521069.1:p.Arg1072=
XM_017023910.1:c.4189A=	XP_016879399.1:p.Arg1397=
XM_017023911.1:c.2374A=	XP_016879400.1:p.Arg792=
NM_014714.4:c.4189A= MANE Select	NP_055529.2:p.Arg1397=