Canonical Allele Identifier: CA2201697821

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1523640G= , CM000678.2:g.1523640G=	GRCh38
NC_000016.9:g.1573641G= , CM000678.1:g.1573641G=	GRCh37
NC_000016.8:g.1513642G=	NCBI36
NG_032783.1:g.93469C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3331C= MANE Select	ENSP00000406012.2:p.Gln1111=
ENST00000361339.9:c.913C=	ENSP00000354895.5:p.Gln305=
ENST00000397417.6:c.*1769C=	ENSP00000380562.2:n.*1769C=
ENST00000426508.6:c.3331C=	ENSP00000406012.2:p.Gln1111=
ENST00000565298.5:n.3155C=
NM_014714.3:c.3331C=	NP_055529.2:p.Gln1111=
XM_006720989.2:c.3331C=	XP_006721052.1:p.Gln1111=
XM_006720990.2:c.3331C=	XP_006721053.1:p.Gln1111=
XM_006720991.2:c.3331C=	XP_006721054.1:p.Gln1111=
XM_006720992.2:c.964C=	XP_006721055.1:p.Gln322=
XM_011522766.1:c.3085C=	XP_011521068.1:p.Gln1029=
XM_011522767.1:c.2356C=	XP_011521069.1:p.Gln786=
XM_006720990.3:c.3331C=	XP_006721053.1:p.Gln1111=
XM_006720991.3:c.3331C=	XP_006721054.1:p.Gln1111=
XM_006720992.3:c.964C=	XP_006721055.1:p.Gln322=
XM_011522766.3:c.3085C=	XP_011521068.1:p.Gln1029=
XM_011522767.2:c.2356C=	XP_011521069.1:p.Gln786=
XM_017023910.1:c.3331C=	XP_016879399.1:p.Gln1111=
XM_017023911.1:c.1516C=	XP_016879400.1:p.Gln506=
NM_014714.4:c.3331C= MANE Select	NP_055529.2:p.Gln1111=