Canonical Allele Identifier: CA7814069

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1564105C>T , CM000678.2:g.1564105C>T	GRCh38
NC_000016.9:g.1614106C>T , CM000678.1:g.1614106C>T	GRCh37
NC_000016.8:g.1554107C>T	NCBI36
NG_032783.1:g.53004G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014714.4:c.1959G>A MANE Select	NP_055529.2:p.Trp653Ter
ENST00000426508.7:c.1959G>A MANE Select	ENSP00000406012.2:p.Trp653Ter
NM_014714.3:c.1959G>A	NP_055529.2:p.Trp653Ter
ENST00000397417.6:c.*511G>A	ENSP00000380562.2:n.*511G>A
ENST00000426508.6:c.1959G>A	ENSP00000406012.2:p.Trp653Ter
ENST00000439987.6:n.2020G>A
ENST00000561954.1:n.6G>A
ENST00000565298.5:n.647G>A
XM_005255725.3:c.1959G>A	XP_005255782.1:p.Trp653Ter
XM_005255725.5:c.1959G>A	XP_005255782.1:p.Trp653Ter
XM_005255726.2:c.1959G>A	XP_005255783.1:p.Trp653Ter
XM_005255726.4:c.1959G>A	XP_005255783.1:p.Trp653Ter
XM_006720989.2:c.1959G>A	XP_006721052.1:p.Trp653Ter
XM_006720990.2:c.1959G>A	XP_006721053.1:p.Trp653Ter
XM_006720990.3:c.1959G>A	XP_006721053.1:p.Trp653Ter
XM_006720991.2:c.1959G>A	XP_006721054.1:p.Trp653Ter
XM_006720991.3:c.1959G>A	XP_006721054.1:p.Trp653Ter
XM_011522766.1:c.1713G>A	XP_011521068.1:p.Trp571Ter
XM_011522766.3:c.1713G>A	XP_011521068.1:p.Trp571Ter
XM_011522767.1:c.984G>A	XP_011521069.1:p.Trp328Ter
XM_011522767.2:c.984G>A	XP_011521069.1:p.Trp328Ter
XM_011522768.1:c.1959G>A	XP_011521070.1:p.Trp653Ter
XM_011522769.1:c.1959G>A	XP_011521071.1:p.Trp653Ter
XM_011522769.3:c.1959G>A	XP_011521071.1:p.Trp653Ter
XM_011522771.1:c.1959G>A	XP_011521073.1:p.Trp653Ter
XM_011522771.3:c.1959G>A	XP_011521073.1:p.Trp653Ter
XM_011522772.1:c.1959G>A	XP_011521074.1:p.Trp653Ter
XM_011522772.3:c.1959G>A	XP_011521074.1:p.Trp653Ter
XM_017023910.1:c.1959G>A	XP_016879399.1:p.Trp653Ter
XM_017023911.1:c.144G>A	XP_016879400.1:p.Trp48Ter