Canonical Allele Identifier: CA2201718372

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511010G= , CM000678.2:g.1511010G=	GRCh38
NC_000016.9:g.1561011G= , CM000678.1:g.1561011G=	GRCh37
NC_000016.8:g.1501012G=	NCBI36
NG_032783.1:g.106099C=
NG_050910.1:g.22667G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4323C= MANE Select	ENSP00000406012.2:p.His1441=
ENST00000361339.9:c.1905C=	ENSP00000354895.5:p.His635=
ENST00000397417.6:c.*2761C=	ENSP00000380562.2:n.*2761C=
ENST00000426508.6:c.4323C=	ENSP00000406012.2:p.His1441=
ENST00000565298.5:n.4147C=
NM_014714.3:c.4323C=	NP_055529.2:p.His1441=
XM_006720989.2:c.4323C=	XP_006721052.1:p.His1441=
XM_006720990.2:c.4323C=	XP_006721053.1:p.His1441=
XM_006720991.2:c.4323C=	XP_006721054.1:p.His1441=
XM_006720992.2:c.1956C=	XP_006721055.1:p.His652=
XM_011522766.1:c.4077C=	XP_011521068.1:p.His1359=
XM_011522767.1:c.3348C=	XP_011521069.1:p.His1116=
XM_006720990.3:c.4323C=	XP_006721053.1:p.His1441=
XM_006720991.3:c.4323C=	XP_006721054.1:p.His1441=
XM_006720992.3:c.1956C=	XP_006721055.1:p.His652=
XM_011522766.3:c.4077C=	XP_011521068.1:p.His1359=
XM_011522767.2:c.3348C=	XP_011521069.1:p.His1116=
XM_017023910.1:c.4323C=	XP_016879399.1:p.His1441=
XM_017023911.1:c.2508C=	XP_016879400.1:p.His836=
NM_014714.4:c.4323C= MANE Select	NP_055529.2:p.His1441=