Canonical Allele Identifier: CA10637151
Gene: IFT140 HGNC NCBI

Linked Data

ClinVar Variation Id: 317975
ClinVar RCV Id: RCV000265885
dbSNP Id: rs886051705
gnomAD v4: 16-1510666-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1510666G>T , CM000678.2:g.1510666G>T GRCh38
NC_000016.9:g.1560667G>T , CM000678.1:g.1560667G>T GRCh37
NC_000016.8:g.1500668G>T NCBI36
NG_032783.1:g.106443C>A
NG_050910.1:g.22323G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000426508.7:c.*278C>A MANE Select ENSP00000406012.2:n.*278C>A
ENST00000361339.9:c.*278C>A ENSP00000354895.5:n.*278C>A
ENST00000397417.6:c.*3105C>A ENSP00000380562.2:n.*3105C>A
ENST00000426508.6:c.*278C>A ENSP00000406012.2:n.*278C>A
ENST00000565298.5:n.4491C>A
NM_014714.3:c.*278C>A NP_055529.2:n.*278C>A
XM_006720989.2:c.*278C>A XP_006721052.1:n.*278C>A
XM_006720990.2:c.*278C>A XP_006721053.1:n.*278C>A
XM_006720991.2:c.*278C>A XP_006721054.1:n.*278C>A
XM_006720992.2:c.*278C>A XP_006721055.1:n.*278C>A
XM_011522766.1:c.*278C>A XP_011521068.1:n.*278C>A
XM_011522767.1:c.*278C>A XP_011521069.1:n.*278C>A
XM_006720990.3:c.*278C>A XP_006721053.1:n.*278C>A
XM_006720991.3:c.*278C>A XP_006721054.1:n.*278C>A
XM_006720992.3:c.*278C>A XP_006721055.1:n.*278C>A
XM_011522766.3:c.*278C>A XP_011521068.1:n.*278C>A
XM_011522767.2:c.*278C>A XP_011521069.1:n.*278C>A
XM_017023910.1:c.*278C>A XP_016879399.1:n.*278C>A
XM_017023911.1:c.*278C>A XP_016879400.1:n.*278C>A
NM_014714.4:c.*278C>A MANE Select NP_055529.2:n.*278C>A