Canonical Allele Identifier: CA394227746

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1526027G>T , CM000678.2:g.1526027G>T	GRCh38
NC_000016.9:g.1576028G>T , CM000678.1:g.1576028G>T	GRCh37
NC_000016.8:g.1516029G>T	NCBI36
NG_032783.1:g.91082C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014714.4:c.2628C>A MANE Select	NP_055529.2:p.Asn876Lys
ENST00000426508.7:c.2628C>A MANE Select	ENSP00000406012.2:p.Asn876Lys
NM_014714.3:c.2628C>A	NP_055529.2:p.Asn876Lys
ENST00000361339.9:c.210C>A	ENSP00000354895.5:p.Asn70Lys
ENST00000397417.6:c.*1066C>A	ENSP00000380562.2:n.*1066C>A
ENST00000426508.6:c.2628C>A	ENSP00000406012.2:p.Asn876Lys
ENST00000565298.5:n.1857C>A
ENST00000566818.1:n.343C>A
XM_006720989.2:c.2628C>A	XP_006721052.1:p.Asn876Lys
XM_006720990.2:c.2628C>A	XP_006721053.1:p.Asn876Lys
XM_006720990.3:c.2628C>A	XP_006721053.1:p.Asn876Lys
XM_006720991.2:c.2628C>A	XP_006721054.1:p.Asn876Lys
XM_006720991.3:c.2628C>A	XP_006721054.1:p.Asn876Lys
XM_006720992.2:c.261C>A	XP_006721055.1:p.Asn87Lys
XM_006720992.3:c.261C>A	XP_006721055.1:p.Asn87Lys
XM_011522766.1:c.2382C>A	XP_011521068.1:p.Asn794Lys
XM_011522766.3:c.2382C>A	XP_011521068.1:p.Asn794Lys
XM_011522767.1:c.1653C>A	XP_011521069.1:p.Asn551Lys
XM_011522767.2:c.1653C>A	XP_011521069.1:p.Asn551Lys
XM_017023910.1:c.2628C>A	XP_016879399.1:p.Asn876Lys
XM_017023911.1:c.813C>A	XP_016879400.1:p.Asn271Lys