Canonical Allele Identifier: CA492931916

Gene: IFT140

Linked Data

• ClinVar Variation Id: 2169378
• ClinVar RCV Id: RCV003093148
• gnomAD v4: 16-1520734-C-T
• MyVariant Identifiers: chr16:g.1570735C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520734C>T , CM000678.2:g.1520734C>T	GRCh38
NC_000016.9:g.1570735C>T , CM000678.1:g.1570735C>T	GRCh37
NC_000016.8:g.1510736C>T	NCBI36
NG_032783.1:g.96375G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3528G>A MANE Select	ENSP00000406012.2:p.Val1176=
ENST00000361339.9:c.1110G>A	ENSP00000354895.5:p.Val370=
ENST00000397417.6:c.*1966G>A	ENSP00000380562.2:n.*1966G>A
ENST00000426508.6:c.3528G>A	ENSP00000406012.2:p.Val1176=
ENST00000565298.5:n.3352G>A
NM_014714.3:c.3528G>A	NP_055529.2:p.Val1176=
XM_006720989.2:c.3528G>A	XP_006721052.1:p.Val1176=
XM_006720990.2:c.3528G>A	XP_006721053.1:p.Val1176=
XM_006720991.2:c.3528G>A	XP_006721054.1:p.Val1176=
XM_006720992.2:c.1161G>A	XP_006721055.1:p.Val387=
XM_011522766.1:c.3282G>A	XP_011521068.1:p.Val1094=
XM_011522767.1:c.2553G>A	XP_011521069.1:p.Val851=
XM_006720990.3:c.3528G>A	XP_006721053.1:p.Val1176=
XM_006720991.3:c.3528G>A	XP_006721054.1:p.Val1176=
XM_006720992.3:c.1161G>A	XP_006721055.1:p.Val387=
XM_011522766.3:c.3282G>A	XP_011521068.1:p.Val1094=
XM_011522767.2:c.2553G>A	XP_011521069.1:p.Val851=
XM_017023910.1:c.3528G>A	XP_016879399.1:p.Val1176=
XM_017023911.1:c.1713G>A	XP_016879400.1:p.Val571=
NM_014714.4:c.3528G>A MANE Select	NP_055529.2:p.Val1176=