Canonical Allele Identifier: CA2843267406

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1523505G>T , CM000678.2:g.1523505G>T	GRCh38
NC_000016.9:g.1573506G>T , CM000678.1:g.1573506G>T	GRCh37
NC_000016.8:g.1513507G>T	NCBI36
NG_032783.1:g.93604C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3453+13C>A MANE Select	ENSP00000406012.2:n.3453+13C>A
ENST00000361339.9:c.1035+13C>A	ENSP00000354895.5:n.1035+13C>A
ENST00000397417.6:c.*1891+13C>A	ENSP00000380562.2:n.*1891+13C>A
ENST00000426508.6:c.3453+13C>A	ENSP00000406012.2:n.3453+13C>A
ENST00000565298.5:n.3277+13C>A
NM_014714.3:c.3453+13C>A	NP_055529.2:n.3453+13C>A
XM_006720989.2:c.3453+13C>A	XP_006721052.1:n.3453+13C>A
XM_006720990.2:c.3453+13C>A	XP_006721053.1:n.3453+13C>A
XM_006720991.2:c.3453+13C>A	XP_006721054.1:n.3453+13C>A
XM_006720992.2:c.1086+13C>A	XP_006721055.1:n.1086+13C>A
XM_011522766.1:c.3207+13C>A	XP_011521068.1:n.3207+13C>A
XM_011522767.1:c.2478+13C>A	XP_011521069.1:n.2478+13C>A
XM_006720990.3:c.3453+13C>A	XP_006721053.1:n.3453+13C>A
XM_006720991.3:c.3453+13C>A	XP_006721054.1:n.3453+13C>A
XM_006720992.3:c.1086+13C>A	XP_006721055.1:n.1086+13C>A
XM_011522766.3:c.3207+13C>A	XP_011521068.1:n.3207+13C>A
XM_011522767.2:c.2478+13C>A	XP_011521069.1:n.2478+13C>A
XM_017023910.1:c.3453+13C>A	XP_016879399.1:n.3453+13C>A
XM_017023911.1:c.1638+13C>A	XP_016879400.1:n.1638+13C>A
NM_014714.4:c.3453+13C>A MANE Select	NP_055529.2:n.3453+13C>A