Canonical Allele Identifier: CA7813411

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1524836C>T , CM000678.2:g.1524836C>T	GRCh38
NC_000016.9:g.1574837C>T , CM000678.1:g.1574837C>T	GRCh37
NC_000016.8:g.1514838C>T	NCBI36
NG_032783.1:g.92273G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014714.4:c.2945G>A MANE Select	NP_055529.2:p.Arg982Gln
ENST00000426508.7:c.2945G>A MANE Select	ENSP00000406012.2:p.Arg982Gln
NM_014714.3:c.2945G>A	NP_055529.2:p.Arg982Gln
ENST00000361339.9:c.527G>A	ENSP00000354895.5:p.Arg176Gln
ENST00000397417.6:c.*1383G>A	ENSP00000380562.2:n.*1383G>A
ENST00000426508.6:c.2945G>A	ENSP00000406012.2:p.Arg982Gln
ENST00000565298.5:n.2174G>A
ENST00000566818.1:n.660G>A
XM_006720989.2:c.2945G>A	XP_006721052.1:p.Arg982Gln
XM_006720990.2:c.2945G>A	XP_006721053.1:p.Arg982Gln
XM_006720990.3:c.2945G>A	XP_006721053.1:p.Arg982Gln
XM_006720991.2:c.2945G>A	XP_006721054.1:p.Arg982Gln
XM_006720991.3:c.2945G>A	XP_006721054.1:p.Arg982Gln
XM_006720992.2:c.578G>A	XP_006721055.1:p.Arg193Gln
XM_006720992.3:c.578G>A	XP_006721055.1:p.Arg193Gln
XM_011522766.1:c.2699G>A	XP_011521068.1:p.Arg900Gln
XM_011522766.3:c.2699G>A	XP_011521068.1:p.Arg900Gln
XM_011522767.1:c.1970G>A	XP_011521069.1:p.Arg657Gln
XM_011522767.2:c.1970G>A	XP_011521069.1:p.Arg657Gln
XM_017023910.1:c.2945G>A	XP_016879399.1:p.Arg982Gln
XM_017023911.1:c.1130G>A	XP_016879400.1:p.Arg377Gln