Canonical Allele Identifier: CA276680117

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1524924C>A , CM000678.2:g.1524924C>A	GRCh38
NC_000016.9:g.1574925C>A , CM000678.1:g.1574925C>A	GRCh37
NC_000016.8:g.1514926C>A	NCBI36
NG_032783.1:g.92185G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014714.4:c.2865-8G>T MANE Select	NP_055529.2:n.2865-8G>T
ENST00000426508.7:c.2865-8G>T MANE Select	ENSP00000406012.2:n.2865-8G>T
NM_014714.3:c.2865-8G>T	NP_055529.2:n.2865-8G>T
ENST00000361339.9:c.447-8G>T	ENSP00000354895.5:n.447-8G>T
ENST00000397417.6:c.*1303-8G>T	ENSP00000380562.2:n.*1303-8G>T
ENST00000426508.6:c.2865-8G>T	ENSP00000406012.2:n.2865-8G>T
ENST00000565298.5:n.2094-8G>T
ENST00000566818.1:n.580-8G>T
XM_006720989.2:c.2865-8G>T	XP_006721052.1:n.2865-8G>T
XM_006720990.2:c.2865-8G>T	XP_006721053.1:n.2865-8G>T
XM_006720990.3:c.2865-8G>T	XP_006721053.1:n.2865-8G>T
XM_006720991.2:c.2865-8G>T	XP_006721054.1:n.2865-8G>T
XM_006720991.3:c.2865-8G>T	XP_006721054.1:n.2865-8G>T
XM_006720992.2:c.498-8G>T	XP_006721055.1:n.498-8G>T
XM_006720992.3:c.498-8G>T	XP_006721055.1:n.498-8G>T
XM_011522766.1:c.2619-8G>T	XP_011521068.1:n.2619-8G>T
XM_011522766.3:c.2619-8G>T	XP_011521068.1:n.2619-8G>T
XM_011522767.1:c.1890-8G>T	XP_011521069.1:n.1890-8G>T
XM_011522767.2:c.1890-8G>T	XP_011521069.1:n.1890-8G>T
XM_017023910.1:c.2865-8G>T	XP_016879399.1:n.2865-8G>T
XM_017023911.1:c.1050-8G>T	XP_016879400.1:n.1050-8G>T