Canonical Allele Identifier: CA493031369

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1560993G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510992G>T , CM000678.2:g.1510992G>T	GRCh38
NC_000016.9:g.1560993G>T , CM000678.1:g.1560993G>T	GRCh37
NC_000016.8:g.1500994G>T	NCBI36
NG_032783.1:g.106117C>A
NG_050910.1:g.22649G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4341C>A MANE Select	ENSP00000406012.2:p.Ala1447=
ENST00000361339.9:c.1923C>A	ENSP00000354895.5:p.Ala641=
ENST00000397417.6:c.*2779C>A	ENSP00000380562.2:n.*2779C>A
ENST00000426508.6:c.4341C>A	ENSP00000406012.2:p.Ala1447=
ENST00000565298.5:n.4165C>A
NM_014714.3:c.4341C>A	NP_055529.2:p.Ala1447=
XM_006720989.2:c.4341C>A	XP_006721052.1:p.Ala1447=
XM_006720990.2:c.4341C>A	XP_006721053.1:p.Ala1447=
XM_006720991.2:c.4341C>A	XP_006721054.1:p.Ala1447=
XM_006720992.2:c.1974C>A	XP_006721055.1:p.Ala658=
XM_011522766.1:c.4095C>A	XP_011521068.1:p.Ala1365=
XM_011522767.1:c.3366C>A	XP_011521069.1:p.Ala1122=
XM_006720990.3:c.4341C>A	XP_006721053.1:p.Ala1447=
XM_006720991.3:c.4341C>A	XP_006721054.1:p.Ala1447=
XM_006720992.3:c.1974C>A	XP_006721055.1:p.Ala658=
XM_011522766.3:c.4095C>A	XP_011521068.1:p.Ala1365=
XM_011522767.2:c.3366C>A	XP_011521069.1:p.Ala1122=
XM_017023910.1:c.4341C>A	XP_016879399.1:p.Ala1447=
XM_017023911.1:c.2526C>A	XP_016879400.1:p.Ala842=
NM_014714.4:c.4341C>A MANE Select	NP_055529.2:p.Ala1447=