Canonical Allele Identifier: CA7812783
Gene: IFT140 HGNC NCBI

Linked Data

ClinVar Variation Id: 1436459
ClinVar RCV Id: RCV001987380
dbSNP Id: rs547804955
gnomAD v2: 16-1561004-T-C
gnomAD v3: 16-1511003-T-C
gnomAD v4: 16-1511003-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1511003T>C , CM000678.2:g.1511003T>C GRCh38
NC_000016.9:g.1561004T>C , CM000678.1:g.1561004T>C GRCh37
NC_000016.8:g.1501005T>C NCBI36
NG_032783.1:g.106106A>G
NG_050910.1:g.22660T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000426508.7:c.4330A>G MANE Select ENSP00000406012.2:p.Met1444Val
ENST00000361339.9:c.1912A>G ENSP00000354895.5:p.Met638Val
ENST00000397417.6:c.*2768A>G ENSP00000380562.2:n.*2768A>G
ENST00000426508.6:c.4330A>G ENSP00000406012.2:p.Met1444Val
ENST00000565298.5:n.4154A>G
NM_014714.3:c.4330A>G NP_055529.2:p.Met1444Val
XM_006720989.2:c.4330A>G XP_006721052.1:p.Met1444Val
XM_006720990.2:c.4330A>G XP_006721053.1:p.Met1444Val
XM_006720991.2:c.4330A>G XP_006721054.1:p.Met1444Val
XM_006720992.2:c.1963A>G XP_006721055.1:p.Met655Val
XM_011522766.1:c.4084A>G XP_011521068.1:p.Met1362Val
XM_011522767.1:c.3355A>G XP_011521069.1:p.Met1119Val
XM_006720990.3:c.4330A>G XP_006721053.1:p.Met1444Val
XM_006720991.3:c.4330A>G XP_006721054.1:p.Met1444Val
XM_006720992.3:c.1963A>G XP_006721055.1:p.Met655Val
XM_011522766.3:c.4084A>G XP_011521068.1:p.Met1362Val
XM_011522767.2:c.3355A>G XP_011521069.1:p.Met1119Val
XM_017023910.1:c.4330A>G XP_016879399.1:p.Met1444Val
XM_017023911.1:c.2515A>G XP_016879400.1:p.Met839Val
NM_014714.4:c.4330A>G MANE Select NP_055529.2:p.Met1444Val