Canonical Allele Identifier: CA7813466

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1525267G>A , CM000678.2:g.1525267G>A	GRCh38
NC_000016.9:g.1575268G>A , CM000678.1:g.1575268G>A	GRCh37
NC_000016.8:g.1515269G>A	NCBI36
NG_032783.1:g.91842C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014714.4:c.2828C>T MANE Select	NP_055529.2:p.Pro943Leu
ENST00000426508.7:c.2828C>T MANE Select	ENSP00000406012.2:p.Pro943Leu
NM_014714.3:c.2828C>T	NP_055529.2:p.Pro943Leu
ENST00000361339.9:c.410C>T	ENSP00000354895.5:p.Pro137Leu
ENST00000397417.6:c.*1266C>T	ENSP00000380562.2:n.*1266C>T
ENST00000426508.6:c.2828C>T	ENSP00000406012.2:p.Pro943Leu
ENST00000565298.5:n.2057C>T
ENST00000566818.1:n.543C>T
XM_006720989.2:c.2828C>T	XP_006721052.1:p.Pro943Leu
XM_006720990.2:c.2828C>T	XP_006721053.1:p.Pro943Leu
XM_006720990.3:c.2828C>T	XP_006721053.1:p.Pro943Leu
XM_006720991.2:c.2828C>T	XP_006721054.1:p.Pro943Leu
XM_006720991.3:c.2828C>T	XP_006721054.1:p.Pro943Leu
XM_006720992.2:c.461C>T	XP_006721055.1:p.Pro154Leu
XM_006720992.3:c.461C>T	XP_006721055.1:p.Pro154Leu
XM_011522766.1:c.2582C>T	XP_011521068.1:p.Pro861Leu
XM_011522766.3:c.2582C>T	XP_011521068.1:p.Pro861Leu
XM_011522767.1:c.1853C>T	XP_011521069.1:p.Pro618Leu
XM_011522767.2:c.1853C>T	XP_011521069.1:p.Pro618Leu
XM_017023910.1:c.2828C>T	XP_016879399.1:p.Pro943Leu
XM_017023911.1:c.1013C>T	XP_016879400.1:p.Pro338Leu