Canonical Allele Identifier: CA276667853

Gene: IFT140 TELO2

Linked Data

• dbSNP Id: rs186998817
• gnomAD v3: 16-1510457-A-C
• gnomAD v4: 16-1510457-A-C
• MyVariant Identifiers: chr16:g.1560458A>C (hg19) ; chr16:g.1510457A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510457A>C , CM000678.2:g.1510457A>C	GRCh38
NC_000016.9:g.1560458A>C , CM000678.1:g.1560458A>C	GRCh37
NC_000016.8:g.1500459A>C	NCBI36
NG_032783.1:g.106652T>G
NG_050910.1:g.22114A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.*487T>G (IFT140) MANE Select	ENSP00000406012.2:n.*487T>G
ENST00000262319.10:c.*521A>C (TELO2)	ENSP00000262319.6:n.*521A>C
ENST00000361339.9:c.*487T>G (IFT140)	ENSP00000354895.5:n.*487T>G
ENST00000397417.6:c.*3314T>G (IFT140)	ENSP00000380562.2:n.*3314T>G
ENST00000426508.6:c.*487T>G (IFT140)	ENSP00000406012.2:n.*487T>G
ENST00000565298.5:n.4700T>G (IFT140)
ENST00000568240.1:n.1327A>C (TELO2)
NM_014714.3:c.*487T>G (IFT140)	NP_055529.2:n.*487T>G
NM_016111.3:c.*521A>C (TELO2)	NP_057195.2:n.*521A>C
XM_006720989.2:c.*487T>G (IFT140)	XP_006721052.1:n.*487T>G
XM_006720990.2:c.*487T>G (IFT140)	XP_006721053.1:n.*487T>G
XM_006720991.2:c.*487T>G (IFT140)	XP_006721054.1:n.*487T>G
XM_006720992.2:c.*487T>G (IFT140)	XP_006721055.1:n.*487T>G
XM_011522766.1:c.*487T>G (IFT140)	XP_011521068.1:n.*487T>G
XM_011522767.1:c.*487T>G (IFT140)	XP_011521069.1:n.*487T>G
NM_001351846.1:c.*521A>C (TELO2)	NP_001338775.1:n.*521A>C
XM_006720990.3:c.*487T>G (IFT140)	XP_006721053.1:n.*487T>G
XM_006720991.3:c.*487T>G (IFT140)	XP_006721054.1:n.*487T>G
XM_006720992.3:c.*487T>G (IFT140)	XP_006721055.1:n.*487T>G
XM_011522766.3:c.*487T>G (IFT140)	XP_011521068.1:n.*487T>G
XM_011522767.2:c.*487T>G (IFT140)	XP_011521069.1:n.*487T>G
XM_011522773.3:c.*521A>C (TELO2)	XP_011521075.1:n.*521A>C
XM_011522774.2:c.*521A>C (TELO2)	XP_011521076.1:n.*521A>C
XM_011522775.3:c.*521A>C (TELO2)	XP_011521077.1:n.*521A>C
XM_011522776.2:c.*521A>C (TELO2)	XP_011521078.1:n.*521A>C
XM_017023910.1:c.*487T>G (IFT140)	XP_016879399.1:n.*487T>G
XM_017023911.1:c.*487T>G (IFT140)	XP_016879400.1:n.*487T>G
XR_001752042.2:n.3567A>C (TELO2)
XR_001752043.2:n.3082A>C (TELO2)
XR_001752044.2:n.3019A>C (TELO2)
XR_932982.3:n.3112A>C (TELO2)
NM_014714.4:c.*487T>G (IFT140) MANE Select	NP_055529.2:n.*487T>G