Canonical Allele Identifier: CA7812766

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510954T>C , CM000678.2:g.1510954T>C	GRCh38
NC_000016.9:g.1560955T>C , CM000678.1:g.1560955T>C	GRCh37
NC_000016.8:g.1500956T>C	NCBI36
NG_032783.1:g.106155A>G
NG_050910.1:g.22611T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014714.4:c.4379A>G MANE Select	NP_055529.2:p.Asp1460Gly
ENST00000426508.7:c.4379A>G MANE Select	ENSP00000406012.2:p.Asp1460Gly
NM_014714.3:c.4379A>G	NP_055529.2:p.Asp1460Gly
ENST00000361339.9:c.1961A>G	ENSP00000354895.5:p.Asp654Gly
ENST00000397417.6:c.*2817A>G	ENSP00000380562.2:n.*2817A>G
ENST00000426508.6:c.4379A>G	ENSP00000406012.2:p.Asp1460Gly
ENST00000565298.5:n.4203A>G
XM_006720989.2:c.4379A>G	XP_006721052.1:p.Asp1460Gly
XM_006720990.2:c.4379A>G	XP_006721053.1:p.Asp1460Gly
XM_006720990.3:c.4379A>G	XP_006721053.1:p.Asp1460Gly
XM_006720991.2:c.4379A>G	XP_006721054.1:p.Asp1460Gly
XM_006720991.3:c.4379A>G	XP_006721054.1:p.Asp1460Gly
XM_006720992.2:c.2012A>G	XP_006721055.1:p.Asp671Gly
XM_006720992.3:c.2012A>G	XP_006721055.1:p.Asp671Gly
XM_011522766.1:c.4133A>G	XP_011521068.1:p.Asp1378Gly
XM_011522766.3:c.4133A>G	XP_011521068.1:p.Asp1378Gly
XM_011522767.1:c.3404A>G	XP_011521069.1:p.Asp1135Gly
XM_011522767.2:c.3404A>G	XP_011521069.1:p.Asp1135Gly
XM_017023910.1:c.4379A>G	XP_016879399.1:p.Asp1460Gly
XM_017023911.1:c.2564A>G	XP_016879400.1:p.Asp855Gly