Canonical Allele Identifier: CA7812801

Gene: IFT140

Linked Data

• ClinVar Variation Id: 957473
• ClinVar RCV Id: RCV001230459 ; RCV002491739
• dbSNP Id: rs150276786
• ExAC: 16:1561060 C / T
• gnomAD v2: 16-1561060-C-T
• gnomAD v3: 16-1511059-C-T
• gnomAD v4: 16-1511059-C-T
• MyVariant Identifiers: chr16:g.1561060C>T (hg19) ; chr16:g.1511059C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511059C>T , CM000678.2:g.1511059C>T	GRCh38
NC_000016.9:g.1561060C>T , CM000678.1:g.1561060C>T	GRCh37
NC_000016.8:g.1501061C>T	NCBI36
NG_032783.1:g.106050G>A
NG_050910.1:g.22716C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4274G>A MANE Select	ENSP00000406012.2:p.Arg1425Gln
ENST00000361339.9:c.1856G>A	ENSP00000354895.5:p.Arg619Gln
ENST00000397417.6:c.*2712G>A	ENSP00000380562.2:n.*2712G>A
ENST00000426508.6:c.4274G>A	ENSP00000406012.2:p.Arg1425Gln
ENST00000565298.5:n.4098G>A
NM_014714.3:c.4274G>A	NP_055529.2:p.Arg1425Gln
XM_006720989.2:c.4274G>A	XP_006721052.1:p.Arg1425Gln
XM_006720990.2:c.4274G>A	XP_006721053.1:p.Arg1425Gln
XM_006720991.2:c.4274G>A	XP_006721054.1:p.Arg1425Gln
XM_006720992.2:c.1907G>A	XP_006721055.1:p.Arg636Gln
XM_011522766.1:c.4028G>A	XP_011521068.1:p.Arg1343Gln
XM_011522767.1:c.3299G>A	XP_011521069.1:p.Arg1100Gln
XM_006720990.3:c.4274G>A	XP_006721053.1:p.Arg1425Gln
XM_006720991.3:c.4274G>A	XP_006721054.1:p.Arg1425Gln
XM_006720992.3:c.1907G>A	XP_006721055.1:p.Arg636Gln
XM_011522766.3:c.4028G>A	XP_011521068.1:p.Arg1343Gln
XM_011522767.2:c.3299G>A	XP_011521069.1:p.Arg1100Gln
XM_017023910.1:c.4274G>A	XP_016879399.1:p.Arg1425Gln
XM_017023911.1:c.2459G>A	XP_016879400.1:p.Arg820Gln
NM_014714.4:c.4274G>A MANE Select	NP_055529.2:p.Arg1425Gln