Canonical Allele Identifier: CA7813115

Gene: IFT140

Linked Data

• ClinVar Variation Id: 1412651
• ClinVar RCV Id: RCV001919153 ; RCV002484473
• dbSNP Id: rs780533679
• ExAC: 16:1570700 C / T
• gnomAD v2: 16-1570700-C-T
• gnomAD v3: 16-1520699-C-T
• gnomAD v4: 16-1520699-C-T
• MyVariant Identifiers: chr16:g.1570700C>T (hg19) ; chr16:g.1520699C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520699C>T , CM000678.2:g.1520699C>T	GRCh38
NC_000016.9:g.1570700C>T , CM000678.1:g.1570700C>T	GRCh37
NC_000016.8:g.1510701C>T	NCBI36
NG_032783.1:g.96410G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3563G>A MANE Select	ENSP00000406012.2:p.Arg1188Gln
ENST00000361339.9:c.1145G>A	ENSP00000354895.5:p.Arg382Gln
ENST00000397417.6:c.*2001G>A	ENSP00000380562.2:n.*2001G>A
ENST00000426508.6:c.3563G>A	ENSP00000406012.2:p.Arg1188Gln
ENST00000565298.5:n.3387G>A
NM_014714.3:c.3563G>A	NP_055529.2:p.Arg1188Gln
XM_006720989.2:c.3563G>A	XP_006721052.1:p.Arg1188Gln
XM_006720990.2:c.3563G>A	XP_006721053.1:p.Arg1188Gln
XM_006720991.2:c.3563G>A	XP_006721054.1:p.Arg1188Gln
XM_006720992.2:c.1196G>A	XP_006721055.1:p.Arg399Gln
XM_011522766.1:c.3317G>A	XP_011521068.1:p.Arg1106Gln
XM_011522767.1:c.2588G>A	XP_011521069.1:p.Arg863Gln
XM_006720990.3:c.3563G>A	XP_006721053.1:p.Arg1188Gln
XM_006720991.3:c.3563G>A	XP_006721054.1:p.Arg1188Gln
XM_006720992.3:c.1196G>A	XP_006721055.1:p.Arg399Gln
XM_011522766.3:c.3317G>A	XP_011521068.1:p.Arg1106Gln
XM_011522767.2:c.2588G>A	XP_011521069.1:p.Arg863Gln
XM_017023910.1:c.3563G>A	XP_016879399.1:p.Arg1188Gln
XM_017023911.1:c.1748G>A	XP_016879400.1:p.Arg583Gln
NM_014714.4:c.3563G>A MANE Select	NP_055529.2:p.Arg1188Gln