Canonical Allele Identifier: CA2201718362

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510985G= , CM000678.2:g.1510985G=	GRCh38
NC_000016.9:g.1560986G= , CM000678.1:g.1560986G=	GRCh37
NC_000016.8:g.1500987G=	NCBI36
NG_032783.1:g.106124C=
NG_050910.1:g.22642G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4348C= MANE Select	ENSP00000406012.2:p.Leu1450=
ENST00000361339.9:c.1930C=	ENSP00000354895.5:p.Leu644=
ENST00000397417.6:c.*2786C=	ENSP00000380562.2:n.*2786C=
ENST00000426508.6:c.4348C=	ENSP00000406012.2:p.Leu1450=
ENST00000565298.5:n.4172C=
NM_014714.3:c.4348C=	NP_055529.2:p.Leu1450=
XM_006720989.2:c.4348C=	XP_006721052.1:p.Leu1450=
XM_006720990.2:c.4348C=	XP_006721053.1:p.Leu1450=
XM_006720991.2:c.4348C=	XP_006721054.1:p.Leu1450=
XM_006720992.2:c.1981C=	XP_006721055.1:p.Leu661=
XM_011522766.1:c.4102C=	XP_011521068.1:p.Leu1368=
XM_011522767.1:c.3373C=	XP_011521069.1:p.Leu1125=
XM_006720990.3:c.4348C=	XP_006721053.1:p.Leu1450=
XM_006720991.3:c.4348C=	XP_006721054.1:p.Leu1450=
XM_006720992.3:c.1981C=	XP_006721055.1:p.Leu661=
XM_011522766.3:c.4102C=	XP_011521068.1:p.Leu1368=
XM_011522767.2:c.3373C=	XP_011521069.1:p.Leu1125=
XM_017023910.1:c.4348C=	XP_016879399.1:p.Leu1450=
XM_017023911.1:c.2533C=	XP_016879400.1:p.Leu845=
NM_014714.4:c.4348C= MANE Select	NP_055529.2:p.Leu1450=