Canonical Allele Identifier: CA7813547

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1526010G>A , CM000678.2:g.1526010G>A	GRCh38
NC_000016.9:g.1576011G>A , CM000678.1:g.1576011G>A	GRCh37
NC_000016.8:g.1516012G>A	NCBI36
NG_032783.1:g.91099C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014714.4:c.2645C>T MANE Select	NP_055529.2:p.Ala882Val
ENST00000426508.7:c.2645C>T MANE Select	ENSP00000406012.2:p.Ala882Val
NM_014714.3:c.2645C>T	NP_055529.2:p.Ala882Val
ENST00000361339.9:c.227C>T	ENSP00000354895.5:p.Ala76Val
ENST00000397417.6:c.*1083C>T	ENSP00000380562.2:n.*1083C>T
ENST00000426508.6:c.2645C>T	ENSP00000406012.2:p.Ala882Val
ENST00000565298.5:n.1874C>T
ENST00000566818.1:n.360C>T
XM_006720989.2:c.2645C>T	XP_006721052.1:p.Ala882Val
XM_006720990.2:c.2645C>T	XP_006721053.1:p.Ala882Val
XM_006720990.3:c.2645C>T	XP_006721053.1:p.Ala882Val
XM_006720991.2:c.2645C>T	XP_006721054.1:p.Ala882Val
XM_006720991.3:c.2645C>T	XP_006721054.1:p.Ala882Val
XM_006720992.2:c.278C>T	XP_006721055.1:p.Ala93Val
XM_006720992.3:c.278C>T	XP_006721055.1:p.Ala93Val
XM_011522766.1:c.2399C>T	XP_011521068.1:p.Ala800Val
XM_011522766.3:c.2399C>T	XP_011521068.1:p.Ala800Val
XM_011522767.1:c.1670C>T	XP_011521069.1:p.Ala557Val
XM_011522767.2:c.1670C>T	XP_011521069.1:p.Ala557Val
XM_017023910.1:c.2645C>T	XP_016879399.1:p.Ala882Val
XM_017023911.1:c.830C>T	XP_016879400.1:p.Ala277Val