Canonical Allele Identifier: CA7813521

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1525939G>A , CM000678.2:g.1525939G>A	GRCh38
NC_000016.9:g.1575940G>A , CM000678.1:g.1575940G>A	GRCh37
NC_000016.8:g.1515941G>A	NCBI36
NG_032783.1:g.91170C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014714.4:c.2716C>T MANE Select	NP_055529.2:p.Arg906Cys
ENST00000426508.7:c.2716C>T MANE Select	ENSP00000406012.2:p.Arg906Cys
NM_014714.3:c.2716C>T	NP_055529.2:p.Arg906Cys
ENST00000361339.9:c.298C>T	ENSP00000354895.5:p.Arg100Cys
ENST00000397417.6:c.*1154C>T	ENSP00000380562.2:n.*1154C>T
ENST00000426508.6:c.2716C>T	ENSP00000406012.2:p.Arg906Cys
ENST00000565298.5:n.1945C>T
ENST00000566818.1:n.431C>T
XM_006720989.2:c.2716C>T	XP_006721052.1:p.Arg906Cys
XM_006720990.2:c.2716C>T	XP_006721053.1:p.Arg906Cys
XM_006720990.3:c.2716C>T	XP_006721053.1:p.Arg906Cys
XM_006720991.2:c.2716C>T	XP_006721054.1:p.Arg906Cys
XM_006720991.3:c.2716C>T	XP_006721054.1:p.Arg906Cys
XM_006720992.2:c.349C>T	XP_006721055.1:p.Arg117Cys
XM_006720992.3:c.349C>T	XP_006721055.1:p.Arg117Cys
XM_011522766.1:c.2470C>T	XP_011521068.1:p.Arg824Cys
XM_011522766.3:c.2470C>T	XP_011521068.1:p.Arg824Cys
XM_011522767.1:c.1741C>T	XP_011521069.1:p.Arg581Cys
XM_011522767.2:c.1741C>T	XP_011521069.1:p.Arg581Cys
XM_017023910.1:c.2716C>T	XP_016879399.1:p.Arg906Cys
XM_017023911.1:c.901C>T	XP_016879400.1:p.Arg301Cys