Canonical Allele Identifier: CA2201697802

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1523596G= , CM000678.2:g.1523596G=	GRCh38
NC_000016.9:g.1573597G= , CM000678.1:g.1573597G=	GRCh37
NC_000016.8:g.1513598G=	NCBI36
NG_032783.1:g.93513C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3375C= MANE Select	ENSP00000406012.2:p.Leu1125=
ENST00000361339.9:c.957C=	ENSP00000354895.5:p.Leu319=
ENST00000397417.6:c.*1813C=	ENSP00000380562.2:n.*1813C=
ENST00000426508.6:c.3375C=	ENSP00000406012.2:p.Leu1125=
ENST00000565298.5:n.3199C=
NM_014714.3:c.3375C=	NP_055529.2:p.Leu1125=
XM_006720989.2:c.3375C=	XP_006721052.1:p.Leu1125=
XM_006720990.2:c.3375C=	XP_006721053.1:p.Leu1125=
XM_006720991.2:c.3375C=	XP_006721054.1:p.Leu1125=
XM_006720992.2:c.1008C=	XP_006721055.1:p.Leu336=
XM_011522766.1:c.3129C=	XP_011521068.1:p.Leu1043=
XM_011522767.1:c.2400C=	XP_011521069.1:p.Leu800=
XM_006720990.3:c.3375C=	XP_006721053.1:p.Leu1125=
XM_006720991.3:c.3375C=	XP_006721054.1:p.Leu1125=
XM_006720992.3:c.1008C=	XP_006721055.1:p.Leu336=
XM_011522766.3:c.3129C=	XP_011521068.1:p.Leu1043=
XM_011522767.2:c.2400C=	XP_011521069.1:p.Leu800=
XM_017023910.1:c.3375C=	XP_016879399.1:p.Leu1125=
XM_017023911.1:c.1560C=	XP_016879400.1:p.Leu520=
NM_014714.4:c.3375C= MANE Select	NP_055529.2:p.Leu1125=