Canonical Allele Identifier: CA2201718368

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511000C= , CM000678.2:g.1511000C=	GRCh38
NC_000016.9:g.1561001C= , CM000678.1:g.1561001C=	GRCh37
NC_000016.8:g.1501002C=	NCBI36
NG_032783.1:g.106109G=
NG_050910.1:g.22657C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4333G= MANE Select	ENSP00000406012.2:p.Glu1445=
ENST00000361339.9:c.1915G=	ENSP00000354895.5:p.Glu639=
ENST00000397417.6:c.*2771G=	ENSP00000380562.2:n.*2771G=
ENST00000426508.6:c.4333G=	ENSP00000406012.2:p.Glu1445=
ENST00000565298.5:n.4157G=
NM_014714.3:c.4333G=	NP_055529.2:p.Glu1445=
XM_006720989.2:c.4333G=	XP_006721052.1:p.Glu1445=
XM_006720990.2:c.4333G=	XP_006721053.1:p.Glu1445=
XM_006720991.2:c.4333G=	XP_006721054.1:p.Glu1445=
XM_006720992.2:c.1966G=	XP_006721055.1:p.Glu656=
XM_011522766.1:c.4087G=	XP_011521068.1:p.Glu1363=
XM_011522767.1:c.3358G=	XP_011521069.1:p.Glu1120=
XM_006720990.3:c.4333G=	XP_006721053.1:p.Glu1445=
XM_006720991.3:c.4333G=	XP_006721054.1:p.Glu1445=
XM_006720992.3:c.1966G=	XP_006721055.1:p.Glu656=
XM_011522766.3:c.4087G=	XP_011521068.1:p.Glu1363=
XM_011522767.2:c.3358G=	XP_011521069.1:p.Glu1120=
XM_017023910.1:c.4333G=	XP_016879399.1:p.Glu1445=
XM_017023911.1:c.2518G=	XP_016879400.1:p.Glu840=
NM_014714.4:c.4333G= MANE Select	NP_055529.2:p.Glu1445=