Canonical Allele Identifier: CA276668370
Gene: IFT140 HGNC NCBI

Linked Data

ClinVar Variation Id: 1638625
ClinVar RCV Id: RCV002126313
dbSNP Id: rs910636195
gnomAD v3: 16-1511138-G-A
gnomAD v4: 16-1511138-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1511138G>A , CM000678.2:g.1511138G>A GRCh38
NC_000016.9:g.1561139G>A , CM000678.1:g.1561139G>A GRCh37
NC_000016.8:g.1501140G>A NCBI36
NG_032783.1:g.105971C>T
NG_050910.1:g.22795G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426508.7:c.4195C>T MANE Select ENSP00000406012.2:p.Leu1399=
ENST00000361339.9:c.1777C>T ENSP00000354895.5:p.Leu593=
ENST00000397417.6:c.*2633C>T ENSP00000380562.2:n.*2633C>T
ENST00000426508.6:c.4195C>T ENSP00000406012.2:p.Leu1399=
ENST00000565298.5:n.4019C>T
NM_014714.3:c.4195C>T NP_055529.2:p.Leu1399=
XM_006720989.2:c.4195C>T XP_006721052.1:p.Leu1399=
XM_006720990.2:c.4195C>T XP_006721053.1:p.Leu1399=
XM_006720991.2:c.4195C>T XP_006721054.1:p.Leu1399=
XM_006720992.2:c.1828C>T XP_006721055.1:p.Leu610=
XM_011522766.1:c.3949C>T XP_011521068.1:p.Leu1317=
XM_011522767.1:c.3220C>T XP_011521069.1:p.Leu1074=
XM_006720990.3:c.4195C>T XP_006721053.1:p.Leu1399=
XM_006720991.3:c.4195C>T XP_006721054.1:p.Leu1399=
XM_006720992.3:c.1828C>T XP_006721055.1:p.Leu610=
XM_011522766.3:c.3949C>T XP_011521068.1:p.Leu1317=
XM_011522767.2:c.3220C>T XP_011521069.1:p.Leu1074=
XM_017023910.1:c.4195C>T XP_016879399.1:p.Leu1399=
XM_017023911.1:c.2380C>T XP_016879400.1:p.Leu794=
NM_014714.4:c.4195C>T MANE Select NP_055529.2:p.Leu1399=