Canonical Allele Identifier: CA658798460

Gene: IFT140

Linked Data

• ClinVar Variation Id: 523178
• ClinVar RCV Id: RCV000626460 ; RCV001779029
• dbSNP Id: rs1423102192
• gnomAD v4: 16-1526594-C-T
• MyVariant Identifiers: chr16:g.1576595C>T (hg19) ; chr16:g.1526594C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1526594C>T , CM000678.2:g.1526594C>T	GRCh38
NC_000016.9:g.1576595C>T , CM000678.1:g.1576595C>T	GRCh37
NC_000016.8:g.1516596C>T	NCBI36
NG_032783.1:g.90515G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.2577+25G>A MANE Select	ENSP00000406012.2:n.2577+25G>A
ENST00000361339.9:c.159+25G>A	ENSP00000354895.5:n.159+25G>A
ENST00000397417.6:c.*1015+139G>A	ENSP00000380562.2:n.*1015+139G>A
ENST00000426508.6:c.2577+25G>A	ENSP00000406012.2:n.2577+25G>A
ENST00000565298.5:n.1290G>A
ENST00000566818.1:n.292+139G>A
NM_014714.3:c.2577+25G>A	NP_055529.2:n.2577+25G>A
XM_006720989.2:c.2577+25G>A	XP_006721052.1:n.2577+25G>A
XM_006720990.2:c.2577+25G>A	XP_006721053.1:n.2577+25G>A
XM_006720991.2:c.2577+25G>A	XP_006721054.1:n.2577+25G>A
XM_006720992.2:c.210+25G>A	XP_006721055.1:n.210+25G>A
XM_011522766.1:c.2331+25G>A	XP_011521068.1:n.2331+25G>A
XM_011522767.1:c.1602+25G>A	XP_011521069.1:n.1602+25G>A
XM_006720990.3:c.2577+25G>A	XP_006721053.1:n.2577+25G>A
XM_006720991.3:c.2577+25G>A	XP_006721054.1:n.2577+25G>A
XM_006720992.3:c.210+25G>A	XP_006721055.1:n.210+25G>A
XM_011522766.3:c.2331+25G>A	XP_011521068.1:n.2331+25G>A
XM_011522767.2:c.1602+25G>A	XP_011521069.1:n.1602+25G>A
XM_017023910.1:c.2577+25G>A	XP_016879399.1:n.2577+25G>A
XM_017023911.1:c.762+25G>A	XP_016879400.1:n.762+25G>A
NM_014714.4:c.2577+25G>A MANE Select	NP_055529.2:n.2577+25G>A