Canonical Allele Identifier: CA492923462
Gene: IFT140 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.1616239T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1566238T>G , CM000678.2:g.1566238T>G GRCh38
NC_000016.9:g.1616239T>G , CM000678.1:g.1616239T>G GRCh37
NC_000016.8:g.1556240T>G NCBI36
NG_032783.1:g.50871A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000426508.7:c.1824A>C MANE Select ENSP00000406012.2:p.Thr608=
ENST00000397417.6:c.*376A>C ENSP00000380562.2:n.*376A>C
ENST00000426508.6:c.1824A>C ENSP00000406012.2:p.Thr608=
ENST00000439987.6:n.1885A>C
ENST00000565298.5:n.512A>C
NM_014714.3:c.1824A>C NP_055529.2:p.Thr608=
XM_005255725.3:c.1824A>C XP_005255782.1:p.Thr608=
XM_005255726.2:c.1824A>C XP_005255783.1:p.Thr608=
XM_006720989.2:c.1824A>C XP_006721052.1:p.Thr608=
XM_006720990.2:c.1824A>C XP_006721053.1:p.Thr608=
XM_006720991.2:c.1824A>C XP_006721054.1:p.Thr608=
XM_011522766.1:c.1578A>C XP_011521068.1:p.Thr526=
XM_011522767.1:c.849A>C XP_011521069.1:p.Thr283=
XM_011522768.1:c.1824A>C XP_011521070.1:p.Thr608=
XM_011522769.1:c.1824A>C XP_011521071.1:p.Thr608=
XM_011522771.1:c.1824A>C XP_011521073.1:p.Thr608=
XM_011522772.1:c.1824A>C XP_011521074.1:p.Thr608=
XM_005255725.5:c.1824A>C XP_005255782.1:p.Thr608=
XM_005255726.4:c.1824A>C XP_005255783.1:p.Thr608=
XM_006720990.3:c.1824A>C XP_006721053.1:p.Thr608=
XM_006720991.3:c.1824A>C XP_006721054.1:p.Thr608=
XM_011522766.3:c.1578A>C XP_011521068.1:p.Thr526=
XM_011522767.2:c.849A>C XP_011521069.1:p.Thr283=
XM_011522769.3:c.1824A>C XP_011521071.1:p.Thr608=
XM_011522771.3:c.1824A>C XP_011521073.1:p.Thr608=
XM_011522772.3:c.1824A>C XP_011521074.1:p.Thr608=
XM_017023910.1:c.1824A>C XP_016879399.1:p.Thr608=
XM_017023911.1:c.9A>C XP_016879400.1:p.Thr3=
NM_014714.4:c.1824A>C MANE Select NP_055529.2:p.Thr608=