Canonical Allele Identifier: CA7814748

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1602411G>T , CM000678.2:g.1602411G>T	GRCh38
NC_000016.9:g.1652412G>T , CM000678.1:g.1652412G>T	GRCh37
NC_000016.8:g.1592413G>T	NCBI36
NG_032783.1:g.14698C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014714.4:c.328C>A MANE Select	NP_055529.2:p.Arg110Ser
ENST00000426508.7:c.328C>A MANE Select	ENSP00000406012.2:p.Arg110Ser
NM_014714.3:c.328C>A	NP_055529.2:p.Arg110Ser
NR_135176.1:n.60-2004G>T
ENST00000397417.6:c.328C>A	ENSP00000380562.2:p.Leu110Met
ENST00000426508.6:c.328C>A	ENSP00000406012.2:p.Arg110Ser
ENST00000439987.6:n.389C>A
ENST00000566052.1:n.400C>A
ENST00000569646.5:c.328C>A	ENSP00000454781.1:p.Arg110Ser
ENST00000569812.1:c.328C>A	ENSP00000457092.1:p.Arg110Ser
XM_005255725.3:c.328C>A	XP_005255782.1:p.Arg110Ser
XM_005255725.5:c.328C>A	XP_005255782.1:p.Arg110Ser
XM_005255726.2:c.328C>A	XP_005255783.1:p.Arg110Ser
XM_005255726.4:c.328C>A	XP_005255783.1:p.Arg110Ser
XM_006720989.2:c.328C>A	XP_006721052.1:p.Arg110Ser
XM_006720990.2:c.328C>A	XP_006721053.1:p.Arg110Ser
XM_006720990.3:c.328C>A	XP_006721053.1:p.Arg110Ser
XM_006720991.2:c.328C>A	XP_006721054.1:p.Arg110Ser
XM_006720991.3:c.328C>A	XP_006721054.1:p.Arg110Ser
XM_011522766.1:c.328C>A	XP_011521068.1:p.Arg110Ser
XM_011522766.3:c.328C>A	XP_011521068.1:p.Arg110Ser
XM_011522768.1:c.328C>A	XP_011521070.1:p.Arg110Ser
XM_011522769.1:c.328C>A	XP_011521071.1:p.Arg110Ser
XM_011522769.3:c.328C>A	XP_011521071.1:p.Arg110Ser
XM_011522771.1:c.328C>A	XP_011521073.1:p.Arg110Ser
XM_011522771.3:c.328C>A	XP_011521073.1:p.Arg110Ser
XM_011522772.1:c.328C>A	XP_011521074.1:p.Arg110Ser
XM_011522772.3:c.328C>A	XP_011521074.1:p.Arg110Ser
XM_017023910.1:c.328C>A	XP_016879399.1:p.Arg110Ser
XM_017023911.1:c.-1370C>A	XP_016879400.1:n.-1370C>A