Canonical Allele Identifier: CA7812745
Gene: IFT140 HGNC NCBI

Linked Data

ClinVar Variation Id: 317982
ClinVar RCV Id: RCV000349911
dbSNP Id: rs761282751
gnomAD v2: 16-1560899-A-C
gnomAD v3: 16-1510898-A-C
gnomAD v4: 16-1510898-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1510898A>C , CM000678.2:g.1510898A>C GRCh38
NC_000016.9:g.1560899A>C , CM000678.1:g.1560899A>C GRCh37
NC_000016.8:g.1500900A>C NCBI36
NG_032783.1:g.106211T>G
NG_050910.1:g.22555A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000426508.7:c.*46T>G MANE Select ENSP00000406012.2:n.*46T>G
ENST00000361339.9:c.*46T>G ENSP00000354895.5:n.*46T>G
ENST00000397417.6:c.*2873T>G ENSP00000380562.2:n.*2873T>G
ENST00000426508.6:c.*46T>G ENSP00000406012.2:n.*46T>G
ENST00000565298.5:n.4259T>G
NM_014714.3:c.*46T>G NP_055529.2:n.*46T>G
XM_006720989.2:c.*46T>G XP_006721052.1:n.*46T>G
XM_006720990.2:c.*46T>G XP_006721053.1:n.*46T>G
XM_006720991.2:c.*46T>G XP_006721054.1:n.*46T>G
XM_006720992.2:c.*46T>G XP_006721055.1:n.*46T>G
XM_011522766.1:c.*46T>G XP_011521068.1:n.*46T>G
XM_011522767.1:c.*46T>G XP_011521069.1:n.*46T>G
XM_006720990.3:c.*46T>G XP_006721053.1:n.*46T>G
XM_006720991.3:c.*46T>G XP_006721054.1:n.*46T>G
XM_006720992.3:c.*46T>G XP_006721055.1:n.*46T>G
XM_011522766.3:c.*46T>G XP_011521068.1:n.*46T>G
XM_011522767.2:c.*46T>G XP_011521069.1:n.*46T>G
XM_017023910.1:c.*46T>G XP_016879399.1:n.*46T>G
XM_017023911.1:c.*46T>G XP_016879400.1:n.*46T>G
NM_014714.4:c.*46T>G MANE Select NP_055529.2:n.*46T>G