Canonical Allele Identifier: CA7812750
Gene: IFT140 HGNC NCBI

Linked Data

ClinVar Variation Id: 317983
ClinVar RCV Id: RCV000395122
dbSNP Id: rs752974569

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1510921G>A , CM000678.2:g.1510921G>A GRCh38
NC_000016.9:g.1560922G>A , CM000678.1:g.1560922G>A GRCh37
NC_000016.8:g.1500923G>A NCBI36
NG_032783.1:g.106188C>T
NG_050910.1:g.22578G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000426508.7:c.*23C>T MANE Select ENSP00000406012.2:p.=
ENST00000361339.9:c.*23C>T ENSP00000354895.5:p.=
ENST00000397417.6:c.*2850C>T ENSP00000380562.2:p.=
ENST00000426508.6:c.*23C>T ENSP00000406012.2:p.=
ENST00000565298.5:n.4236C>T
NM_014714.3:c.*23C>T NP_055529.2:p.=
XM_006720989.2:c.*23C>T XP_006721052.1:p.=
XM_006720990.2:c.*23C>T XP_006721053.1:p.=
XM_006720991.2:c.*23C>T XP_006721054.1:p.=
XM_006720992.2:c.*23C>T XP_006721055.1:p.=
XM_011522766.1:c.*23C>T XP_011521068.1:p.=
XM_011522767.1:c.*23C>T XP_011521069.1:p.=
XM_006720990.3:c.*23C>T XP_006721053.1:p.=
XM_006720991.3:c.*23C>T XP_006721054.1:p.=
XM_006720992.3:c.*23C>T XP_006721055.1:p.=
XM_011522766.3:c.*23C>T XP_011521068.1:p.=
XM_011522767.2:c.*23C>T XP_011521069.1:p.=
XM_017023910.1:c.*23C>T XP_016879399.1:p.=
XM_017023911.1:c.*23C>T XP_016879400.1:p.=
NM_014714.4:c.*23C>T MANE Select NP_055529.2:p.=