Canonical Allele Identifier: CA2631005724

Gene: IFT140 TELO2

Linked Data

• gnomAD v4: 16-1510458-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510458C>G , CM000678.2:g.1510458C>G	GRCh38
NC_000016.9:g.1560459C>G , CM000678.1:g.1560459C>G	GRCh37
NC_000016.8:g.1500460C>G	NCBI36
NG_032783.1:g.106651G>C
NG_050910.1:g.22115C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.*486G>C (IFT140) MANE Select	ENSP00000406012.2:n.*486G>C
ENST00000361339.9:c.*486G>C (IFT140)	ENSP00000354895.5:n.*486G>C
ENST00000397417.6:c.*3313G>C (IFT140)	ENSP00000380562.2:n.*3313G>C
ENST00000426508.6:c.*486G>C (IFT140)	ENSP00000406012.2:n.*486G>C
ENST00000565298.5:n.4699G>C (IFT140)
NM_014714.3:c.*486G>C (IFT140)	NP_055529.2:n.*486G>C
NM_016111.3:c.*522C>G (TELO2)	NP_057195.2:n.*522C>G
XM_006720989.2:c.*486G>C (IFT140)	XP_006721052.1:n.*486G>C
XM_006720990.2:c.*486G>C (IFT140)	XP_006721053.1:n.*486G>C
XM_006720991.2:c.*486G>C (IFT140)	XP_006721054.1:n.*486G>C
XM_006720992.2:c.*486G>C (IFT140)	XP_006721055.1:n.*486G>C
XM_011522766.1:c.*486G>C (IFT140)	XP_011521068.1:n.*486G>C
XM_011522767.1:c.*486G>C (IFT140)	XP_011521069.1:n.*486G>C
NM_001351846.1:c.*522C>G (TELO2)	NP_001338775.1:n.*522C>G
XM_006720990.3:c.*486G>C (IFT140)	XP_006721053.1:n.*486G>C
XM_006720991.3:c.*486G>C (IFT140)	XP_006721054.1:n.*486G>C
XM_006720992.3:c.*486G>C (IFT140)	XP_006721055.1:n.*486G>C
XM_011522766.3:c.*486G>C (IFT140)	XP_011521068.1:n.*486G>C
XM_011522767.2:c.*486G>C (IFT140)	XP_011521069.1:n.*486G>C
XM_011522773.3:c.*522C>G (TELO2)	XP_011521075.1:n.*522C>G
XM_011522774.2:c.*522C>G (TELO2)	XP_011521076.1:n.*522C>G
XM_011522775.3:c.*522C>G (TELO2)	XP_011521077.1:n.*522C>G
XM_011522776.2:c.*522C>G (TELO2)	XP_011521078.1:n.*522C>G
XM_017023910.1:c.*486G>C (IFT140)	XP_016879399.1:n.*486G>C
XM_017023911.1:c.*486G>C (IFT140)	XP_016879400.1:n.*486G>C
NM_014714.4:c.*486G>C (IFT140) MANE Select	NP_055529.2:n.*486G>C