Canonical Allele Identifier: CA7812960

Gene: IFT140

Linked Data

• ClinVar Variation Id: 964290
• ClinVar RCV Id: RCV001238483 ; RCV002480779 ; RCV003263877 ; RCV003456484
• dbSNP Id: rs376151586
• ExAC: 16:1569933 G / A
• gnomAD v2: 16-1569933-G-A
• gnomAD v3: 16-1519932-G-A
• gnomAD v4: 16-1519932-G-A
• MyVariant Identifiers: chr16:g.1569933G>A (hg19) ; chr16:g.1519932G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1519932G>A , CM000678.2:g.1519932G>A	GRCh38
NC_000016.9:g.1569933G>A , CM000678.1:g.1569933G>A	GRCh37
NC_000016.8:g.1509934G>A	NCBI36
NG_032783.1:g.97177C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3989C>T MANE Select	ENSP00000406012.2:p.Ala1330Val
ENST00000361339.9:c.1571C>T	ENSP00000354895.5:p.Ala524Val
ENST00000397417.6:c.*2427C>T	ENSP00000380562.2:n.*2427C>T
ENST00000426508.6:c.3989C>T	ENSP00000406012.2:p.Ala1330Val
ENST00000565298.5:n.3813C>T
ENST00000568837.1:c.107C>T	ENSP00000458439.1:p.Ala36Val
NM_014714.3:c.3989C>T	NP_055529.2:p.Ala1330Val
XM_006720989.2:c.3989C>T	XP_006721052.1:p.Ala1330Val
XM_006720990.2:c.3989C>T	XP_006721053.1:p.Ala1330Val
XM_006720991.2:c.3989C>T	XP_006721054.1:p.Ala1330Val
XM_006720992.2:c.1622C>T	XP_006721055.1:p.Ala541Val
XM_011522766.1:c.3743C>T	XP_011521068.1:p.Ala1248Val
XM_011522767.1:c.3014C>T	XP_011521069.1:p.Ala1005Val
XM_006720990.3:c.3989C>T	XP_006721053.1:p.Ala1330Val
XM_006720991.3:c.3989C>T	XP_006721054.1:p.Ala1330Val
XM_006720992.3:c.1622C>T	XP_006721055.1:p.Ala541Val
XM_011522766.3:c.3743C>T	XP_011521068.1:p.Ala1248Val
XM_011522767.2:c.3014C>T	XP_011521069.1:p.Ala1005Val
XM_017023910.1:c.3989C>T	XP_016879399.1:p.Ala1330Val
XM_017023911.1:c.2174C>T	XP_016879400.1:p.Ala725Val
NM_014714.4:c.3989C>T MANE Select	NP_055529.2:p.Ala1330Val