Canonical Allele Identifier: CA243044

Gene: IFT140

Linked Data

• ClinVar Variation Id: 196179
• ClinVar RCV Id: RCV000176939 ; RCV000329010 ; RCV002492766 ; RCV003888631
• dbSNP Id: rs200699325
• ExAC: 16:1569934 C / T
• gnomAD v2: 16-1569934-C-T
• gnomAD v3: 16-1519933-C-T
• gnomAD v4: 16-1519933-C-T
• MyVariant Identifiers: chr16:g.1569934C>T (hg19) ; chr16:g.1519933C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1519933C>T , CM000678.2:g.1519933C>T	GRCh38
NC_000016.9:g.1569934C>T , CM000678.1:g.1569934C>T	GRCh37
NC_000016.8:g.1509935C>T	NCBI36
NG_032783.1:g.97176G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.3988G>A MANE Select	ENSP00000406012.2:p.Ala1330Thr
ENST00000361339.9:c.1570G>A	ENSP00000354895.5:p.Ala524Thr
ENST00000397417.6:c.*2426G>A	ENSP00000380562.2:n.*2426G>A
ENST00000426508.6:c.3988G>A	ENSP00000406012.2:p.Ala1330Thr
ENST00000565298.5:n.3812G>A
ENST00000568837.1:c.106G>A	ENSP00000458439.1:p.Ala36Thr
NM_014714.3:c.3988G>A	NP_055529.2:p.Ala1330Thr
XM_006720989.2:c.3988G>A	XP_006721052.1:p.Ala1330Thr
XM_006720990.2:c.3988G>A	XP_006721053.1:p.Ala1330Thr
XM_006720991.2:c.3988G>A	XP_006721054.1:p.Ala1330Thr
XM_006720992.2:c.1621G>A	XP_006721055.1:p.Ala541Thr
XM_011522766.1:c.3742G>A	XP_011521068.1:p.Ala1248Thr
XM_011522767.1:c.3013G>A	XP_011521069.1:p.Ala1005Thr
XM_006720990.3:c.3988G>A	XP_006721053.1:p.Ala1330Thr
XM_006720991.3:c.3988G>A	XP_006721054.1:p.Ala1330Thr
XM_006720992.3:c.1621G>A	XP_006721055.1:p.Ala541Thr
XM_011522766.3:c.3742G>A	XP_011521068.1:p.Ala1248Thr
XM_011522767.2:c.3013G>A	XP_011521069.1:p.Ala1005Thr
XM_017023910.1:c.3988G>A	XP_016879399.1:p.Ala1330Thr
XM_017023911.1:c.2173G>A	XP_016879400.1:p.Ala725Thr
NM_014714.4:c.3988G>A MANE Select	NP_055529.2:p.Ala1330Thr