Canonical Allele Identifier: CA2201731357

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1566276C= , CM000678.2:g.1566276C=	GRCh38
NC_000016.9:g.1616277C= , CM000678.1:g.1616277C=	GRCh37
NC_000016.8:g.1556278C=	NCBI36
NG_032783.1:g.50833G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.1786G= MANE Select	ENSP00000406012.2:p.Asp596=
ENST00000397417.6:c.*338G=	ENSP00000380562.2:n.*338G=
ENST00000426508.6:c.1786G=	ENSP00000406012.2:p.Asp596=
ENST00000439987.6:n.1847G=
ENST00000565298.5:n.474G=
NM_014714.3:c.1786G=	NP_055529.2:p.Asp596=
XM_005255725.3:c.1786G=	XP_005255782.1:p.Asp596=
XM_005255726.2:c.1786G=	XP_005255783.1:p.Asp596=
XM_006720989.2:c.1786G=	XP_006721052.1:p.Asp596=
XM_006720990.2:c.1786G=	XP_006721053.1:p.Asp596=
XM_006720991.2:c.1786G=	XP_006721054.1:p.Asp596=
XM_011522766.1:c.1540G=	XP_011521068.1:p.Asp514=
XM_011522767.1:c.811G=	XP_011521069.1:p.Asp271=
XM_011522768.1:c.1786G=	XP_011521070.1:p.Asp596=
XM_011522769.1:c.1786G=	XP_011521071.1:p.Asp596=
XM_011522771.1:c.1786G=	XP_011521073.1:p.Asp596=
XM_011522772.1:c.1786G=	XP_011521074.1:p.Asp596=
XM_005255725.5:c.1786G=	XP_005255782.1:p.Asp596=
XM_005255726.4:c.1786G=	XP_005255783.1:p.Asp596=
XM_006720990.3:c.1786G=	XP_006721053.1:p.Asp596=
XM_006720991.3:c.1786G=	XP_006721054.1:p.Asp596=
XM_011522766.3:c.1540G=	XP_011521068.1:p.Asp514=
XM_011522767.2:c.811G=	XP_011521069.1:p.Asp271=
XM_011522769.3:c.1786G=	XP_011521071.1:p.Asp596=
XM_011522771.3:c.1786G=	XP_011521073.1:p.Asp596=
XM_011522772.3:c.1786G=	XP_011521074.1:p.Asp596=
XM_017023910.1:c.1786G=	XP_016879399.1:p.Asp596=
XM_017023911.1:c.-30G=	XP_016879400.1:n.-30G=
NM_014714.4:c.1786G= MANE Select	NP_055529.2:p.Asp596=