Canonical Allele Identifier: CA7812825

Gene: IFT140

Linked Data

• ClinVar Variation Id: 859231
• ClinVar RCV Id: RCV001065297 ; RCV003259077
• dbSNP Id: rs558519810
• ExAC: 16:1561120 C / T
• gnomAD v2: 16-1561120-C-T
• gnomAD v3: 16-1511119-C-T
• gnomAD v4: 16-1511119-C-T
• MyVariant Identifiers: chr16:g.1561120C>T (hg19) ; chr16:g.1511119C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511119C>T , CM000678.2:g.1511119C>T	GRCh38
NC_000016.9:g.1561120C>T , CM000678.1:g.1561120C>T	GRCh37
NC_000016.8:g.1501121C>T	NCBI36
NG_032783.1:g.105990G>A
NG_050910.1:g.22776C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4214G>A MANE Select	ENSP00000406012.2:p.Arg1405Gln
ENST00000361339.9:c.1796G>A	ENSP00000354895.5:p.Arg599Gln
ENST00000397417.6:c.*2652G>A	ENSP00000380562.2:n.*2652G>A
ENST00000426508.6:c.4214G>A	ENSP00000406012.2:p.Arg1405Gln
ENST00000565298.5:n.4038G>A
NM_014714.3:c.4214G>A	NP_055529.2:p.Arg1405Gln
XM_006720989.2:c.4214G>A	XP_006721052.1:p.Arg1405Gln
XM_006720990.2:c.4214G>A	XP_006721053.1:p.Arg1405Gln
XM_006720991.2:c.4214G>A	XP_006721054.1:p.Arg1405Gln
XM_006720992.2:c.1847G>A	XP_006721055.1:p.Arg616Gln
XM_011522766.1:c.3968G>A	XP_011521068.1:p.Arg1323Gln
XM_011522767.1:c.3239G>A	XP_011521069.1:p.Arg1080Gln
XM_006720990.3:c.4214G>A	XP_006721053.1:p.Arg1405Gln
XM_006720991.3:c.4214G>A	XP_006721054.1:p.Arg1405Gln
XM_006720992.3:c.1847G>A	XP_006721055.1:p.Arg616Gln
XM_011522766.3:c.3968G>A	XP_011521068.1:p.Arg1323Gln
XM_011522767.2:c.3239G>A	XP_011521069.1:p.Arg1080Gln
XM_017023910.1:c.4214G>A	XP_016879399.1:p.Arg1405Gln
XM_017023911.1:c.2399G>A	XP_016879400.1:p.Arg800Gln
NM_014714.4:c.4214G>A MANE Select	NP_055529.2:p.Arg1405Gln