Canonical Allele Identifier: CA241953

Gene: IFT140

Linked Data

• ClinVar Variation Id: 195510
• ClinVar RCV Id: RCV000176094 ; RCV001039003 ; RCV003955044 ; RCV002492757
• dbSNP Id: rs754753583
• ExAC: 16:1576646 C / T
• gnomAD v2: 16-1576646-C-T
• gnomAD v3: 16-1526645-C-T
• gnomAD v4: 16-1526645-C-T
• COSMIC: COSM6039960
• MyVariant Identifiers: chr16:g.1576646C>T (hg19) ; chr16:g.1526645C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1526645C>T , CM000678.2:g.1526645C>T	GRCh38
NC_000016.9:g.1576646C>T , CM000678.1:g.1576646C>T	GRCh37
NC_000016.8:g.1516647C>T	NCBI36
NG_032783.1:g.90464G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.2551G>A MANE Select	ENSP00000406012.2:p.Val851Met
ENST00000361339.9:c.133G>A	ENSP00000354895.5:p.Val45Met
ENST00000397417.6:c.*1015+88G>A	ENSP00000380562.2:n.*1015+88G>A
ENST00000426508.6:c.2551G>A	ENSP00000406012.2:p.Val851Met
ENST00000565298.5:n.1239G>A
ENST00000566818.1:n.292+88G>A
NM_014714.3:c.2551G>A	NP_055529.2:p.Val851Met
XM_006720989.2:c.2551G>A	XP_006721052.1:p.Val851Met
XM_006720990.2:c.2551G>A	XP_006721053.1:p.Val851Met
XM_006720991.2:c.2551G>A	XP_006721054.1:p.Val851Met
XM_006720992.2:c.184G>A	XP_006721055.1:p.Val62Met
XM_011522766.1:c.2305G>A	XP_011521068.1:p.Val769Met
XM_011522767.1:c.1576G>A	XP_011521069.1:p.Val526Met
XM_006720990.3:c.2551G>A	XP_006721053.1:p.Val851Met
XM_006720991.3:c.2551G>A	XP_006721054.1:p.Val851Met
XM_006720992.3:c.184G>A	XP_006721055.1:p.Val62Met
XM_011522766.3:c.2305G>A	XP_011521068.1:p.Val769Met
XM_011522767.2:c.1576G>A	XP_011521069.1:p.Val526Met
XM_017023910.1:c.2551G>A	XP_016879399.1:p.Val851Met
XM_017023911.1:c.736G>A	XP_016879400.1:p.Val246Met
NM_014714.4:c.2551G>A MANE Select	NP_055529.2:p.Val851Met