Canonical Allele Identifier: CA394222222

Gene: IFT140

Linked Data

• ClinVar Variation Id: 1439335
• ClinVar RCV Id: RCV001936593
• dbSNP Id: rs1386131080
• gnomAD v2: 16-1560968-C-T
• gnomAD v4: 16-1510967-C-T
• MyVariant Identifiers: chr16:g.1560968C>T (hg19) ; chr16:g.1510967C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510967C>T , CM000678.2:g.1510967C>T	GRCh38
NC_000016.9:g.1560968C>T , CM000678.1:g.1560968C>T	GRCh37
NC_000016.8:g.1500969C>T	NCBI36
NG_032783.1:g.106142G>A
NG_050910.1:g.22624C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4366G>A MANE Select	ENSP00000406012.2:p.Glu1456Lys
ENST00000361339.9:c.1948G>A	ENSP00000354895.5:p.Glu650Lys
ENST00000397417.6:c.*2804G>A	ENSP00000380562.2:n.*2804G>A
ENST00000426508.6:c.4366G>A	ENSP00000406012.2:p.Glu1456Lys
ENST00000565298.5:n.4190G>A
NM_014714.3:c.4366G>A	NP_055529.2:p.Glu1456Lys
XM_006720989.2:c.4366G>A	XP_006721052.1:p.Glu1456Lys
XM_006720990.2:c.4366G>A	XP_006721053.1:p.Glu1456Lys
XM_006720991.2:c.4366G>A	XP_006721054.1:p.Glu1456Lys
XM_006720992.2:c.1999G>A	XP_006721055.1:p.Glu667Lys
XM_011522766.1:c.4120G>A	XP_011521068.1:p.Glu1374Lys
XM_011522767.1:c.3391G>A	XP_011521069.1:p.Glu1131Lys
XM_006720990.3:c.4366G>A	XP_006721053.1:p.Glu1456Lys
XM_006720991.3:c.4366G>A	XP_006721054.1:p.Glu1456Lys
XM_006720992.3:c.1999G>A	XP_006721055.1:p.Glu667Lys
XM_011522766.3:c.4120G>A	XP_011521068.1:p.Glu1374Lys
XM_011522767.2:c.3391G>A	XP_011521069.1:p.Glu1131Lys
XM_017023910.1:c.4366G>A	XP_016879399.1:p.Glu1456Lys
XM_017023911.1:c.2551G>A	XP_016879400.1:p.Glu851Lys
NM_014714.4:c.4366G>A MANE Select	NP_055529.2:p.Glu1456Lys