Canonical Allele Identifier: CA276675401

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520045C>T , CM000678.2:g.1520045C>T	GRCh38
NC_000016.9:g.1570046C>T , CM000678.1:g.1570046C>T	GRCh37
NC_000016.8:g.1510047C>T	NCBI36
NG_032783.1:g.97064G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014714.4:c.3876G>A MANE Select	NP_055529.2:p.Val1292=
ENST00000426508.7:c.3876G>A MANE Select	ENSP00000406012.2:p.Val1292=
NM_014714.3:c.3876G>A	NP_055529.2:p.Val1292=
ENST00000361339.9:c.1458G>A	ENSP00000354895.5:p.Val486=
ENST00000397417.6:c.*2314G>A	ENSP00000380562.2:n.*2314G>A
ENST00000426508.6:c.3876G>A	ENSP00000406012.2:p.Val1292=
ENST00000565298.5:n.3700G>A
XM_006720989.2:c.3876G>A	XP_006721052.1:p.Val1292=
XM_006720990.2:c.3876G>A	XP_006721053.1:p.Val1292=
XM_006720990.3:c.3876G>A	XP_006721053.1:p.Val1292=
XM_006720991.2:c.3876G>A	XP_006721054.1:p.Val1292=
XM_006720991.3:c.3876G>A	XP_006721054.1:p.Val1292=
XM_006720992.2:c.1509G>A	XP_006721055.1:p.Val503=
XM_006720992.3:c.1509G>A	XP_006721055.1:p.Val503=
XM_011522766.1:c.3630G>A	XP_011521068.1:p.Val1210=
XM_011522766.3:c.3630G>A	XP_011521068.1:p.Val1210=
XM_011522767.1:c.2901G>A	XP_011521069.1:p.Val967=
XM_011522767.2:c.2901G>A	XP_011521069.1:p.Val967=
XM_017023910.1:c.3876G>A	XP_016879399.1:p.Val1292=
XM_017023911.1:c.2061G>A	XP_016879400.1:p.Val687=