Canonical Allele Identifier: CA7813127
Gene: IFT140 HGNC NCBI

Linked Data

ClinVar Variation Id: 318008
ClinVar RCV Id: RCV000263838
dbSNP Id: rs752664070

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1520737G>C , CM000678.2:g.1520737G>C GRCh38
NC_000016.9:g.1570738G>C , CM000678.1:g.1570738G>C GRCh37
NC_000016.8:g.1510739G>C NCBI36
NG_032783.1:g.96372C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000426508.7:c.3525C>G MANE Select ENSP00000406012.2:p.Thr1175=
ENST00000361339.9:c.1107C>G ENSP00000354895.5:p.Thr369=
ENST00000397417.6:c.*1963C>G ENSP00000380562.2:p.=
ENST00000426508.6:c.3525C>G ENSP00000406012.2:p.Thr1175=
ENST00000565298.5:n.3349C>G
NM_014714.3:c.3525C>G NP_055529.2:p.Thr1175=
XM_006720989.2:c.3525C>G XP_006721052.1:p.Thr1175=
XM_006720990.2:c.3525C>G XP_006721053.1:p.Thr1175=
XM_006720991.2:c.3525C>G XP_006721054.1:p.Thr1175=
XM_006720992.2:c.1158C>G XP_006721055.1:p.Thr386=
XM_011522766.1:c.3279C>G XP_011521068.1:p.Thr1093=
XM_011522767.1:c.2550C>G XP_011521069.1:p.Thr850=
XM_006720990.3:c.3525C>G XP_006721053.1:p.Thr1175=
XM_006720991.3:c.3525C>G XP_006721054.1:p.Thr1175=
XM_006720992.3:c.1158C>G XP_006721055.1:p.Thr386=
XM_011522766.3:c.3279C>G XP_011521068.1:p.Thr1093=
XM_011522767.2:c.2550C>G XP_011521069.1:p.Thr850=
XM_017023910.1:c.3525C>G XP_016879399.1:p.Thr1175=
XM_017023911.1:c.1710C>G XP_016879400.1:p.Thr570=
NM_014714.4:c.3525C>G MANE Select NP_055529.2:p.Thr1175=