Canonical Allele Identifier: CA394227921

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1526079T>C , CM000678.2:g.1526079T>C	GRCh38
NC_000016.9:g.1576080T>C , CM000678.1:g.1576080T>C	GRCh37
NC_000016.8:g.1516081T>C	NCBI36
NG_032783.1:g.91030A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014714.4:c.2578-2A>G MANE Select	NP_055529.2:n.2578-2A>G
ENST00000426508.7:c.2578-2A>G MANE Select	ENSP00000406012.2:n.2578-2A>G
NM_014714.3:c.2578-2A>G	NP_055529.2:n.2578-2A>G
ENST00000361339.9:c.160-2A>G	ENSP00000354895.5:n.160-2A>G
ENST00000397417.6:c.*1016-2A>G	ENSP00000380562.2:n.*1016-2A>G
ENST00000426508.6:c.2578-2A>G	ENSP00000406012.2:n.2578-2A>G
ENST00000565298.5:n.1805A>G
ENST00000566818.1:n.293-2A>G
XM_006720989.2:c.2578-2A>G	XP_006721052.1:n.2578-2A>G
XM_006720990.2:c.2578-2A>G	XP_006721053.1:n.2578-2A>G
XM_006720990.3:c.2578-2A>G	XP_006721053.1:n.2578-2A>G
XM_006720991.2:c.2578-2A>G	XP_006721054.1:n.2578-2A>G
XM_006720991.3:c.2578-2A>G	XP_006721054.1:n.2578-2A>G
XM_006720992.2:c.211-2A>G	XP_006721055.1:n.211-2A>G
XM_006720992.3:c.211-2A>G	XP_006721055.1:n.211-2A>G
XM_011522766.1:c.2332-2A>G	XP_011521068.1:n.2332-2A>G
XM_011522766.3:c.2332-2A>G	XP_011521068.1:n.2332-2A>G
XM_011522767.1:c.1603-2A>G	XP_011521069.1:n.1603-2A>G
XM_011522767.2:c.1603-2A>G	XP_011521069.1:n.1603-2A>G
XM_017023910.1:c.2578-2A>G	XP_016879399.1:n.2578-2A>G
XM_017023911.1:c.763-2A>G	XP_016879400.1:n.763-2A>G