Canonical Allele Identifier: CA7813598

Gene: IFT140

Linked Data

• ClinVar Variation Id: 2077336
• ClinVar RCV Id: RCV002985470
• dbSNP Id: rs762191941
• ExAC: 16:1576678 T / C
• gnomAD v2: 16-1576678-T-C
• gnomAD v3: 16-1526677-T-C
• gnomAD v4: 16-1526677-T-C
• MyVariant Identifiers: chr16:g.1576678T>C (hg19) ; chr16:g.1526677T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1526677T>C , CM000678.2:g.1526677T>C	GRCh38
NC_000016.9:g.1576678T>C , CM000678.1:g.1576678T>C	GRCh37
NC_000016.8:g.1516679T>C	NCBI36
NG_032783.1:g.90432A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.2519A>G MANE Select	ENSP00000406012.2:p.Glu840Gly
ENST00000361339.9:c.101A>G	ENSP00000354895.5:p.Glu34Gly
ENST00000397417.6:c.*1015+56A>G	ENSP00000380562.2:n.*1015+56A>G
ENST00000426508.6:c.2519A>G	ENSP00000406012.2:p.Glu840Gly
ENST00000565298.5:n.1207A>G
ENST00000566818.1:n.292+56A>G
NM_014714.3:c.2519A>G	NP_055529.2:p.Glu840Gly
XM_006720989.2:c.2519A>G	XP_006721052.1:p.Glu840Gly
XM_006720990.2:c.2519A>G	XP_006721053.1:p.Glu840Gly
XM_006720991.2:c.2519A>G	XP_006721054.1:p.Glu840Gly
XM_006720992.2:c.152A>G	XP_006721055.1:p.Glu51Gly
XM_011522766.1:c.2273A>G	XP_011521068.1:p.Glu758Gly
XM_011522767.1:c.1544A>G	XP_011521069.1:p.Glu515Gly
XM_006720990.3:c.2519A>G	XP_006721053.1:p.Glu840Gly
XM_006720991.3:c.2519A>G	XP_006721054.1:p.Glu840Gly
XM_006720992.3:c.152A>G	XP_006721055.1:p.Glu51Gly
XM_011522766.3:c.2273A>G	XP_011521068.1:p.Glu758Gly
XM_011522767.2:c.1544A>G	XP_011521069.1:p.Glu515Gly
XM_017023910.1:c.2519A>G	XP_016879399.1:p.Glu840Gly
XM_017023911.1:c.704A>G	XP_016879400.1:p.Glu235Gly
NM_014714.4:c.2519A>G MANE Select	NP_055529.2:p.Glu840Gly