Canonical Allele Identifier: CA202182

Gene: IFT140

Linked Data

• ClinVar Variation Id: 196180
• ClinVar RCV Id: RCV000176940
• dbSNP Id: rs794727473
• MyVariant Identifiers: chr16:g.1569931G>A (hg19) ; chr16:g.1519930G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1519930G>A , CM000678.2:g.1519930G>A	GRCh38
NC_000016.9:g.1569931G>A , CM000678.1:g.1569931G>A	GRCh37
NC_000016.8:g.1509932G>A	NCBI36
NG_032783.1:g.97179C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.3991C>T MANE Select	ENSP00000406012.2:p.Gln1331Ter
ENST00000361339.9:c.1573C>T	ENSP00000354895.5:p.Gln525Ter
ENST00000397417.6:c.*2429C>T	ENSP00000380562.2:n.*2429C>T
ENST00000426508.6:c.3991C>T	ENSP00000406012.2:p.Gln1331Ter
ENST00000565298.5:n.3815C>T
ENST00000568837.1:c.109C>T	ENSP00000458439.1:p.Gln37Ter
NM_014714.3:c.3991C>T	NP_055529.2:p.Gln1331Ter
XM_006720989.2:c.3991C>T	XP_006721052.1:p.Gln1331Ter
XM_006720990.2:c.3991C>T	XP_006721053.1:p.Gln1331Ter
XM_006720991.2:c.3991C>T	XP_006721054.1:p.Gln1331Ter
XM_006720992.2:c.1624C>T	XP_006721055.1:p.Gln542Ter
XM_011522766.1:c.3745C>T	XP_011521068.1:p.Gln1249Ter
XM_011522767.1:c.3016C>T	XP_011521069.1:p.Gln1006Ter
XM_006720990.3:c.3991C>T	XP_006721053.1:p.Gln1331Ter
XM_006720991.3:c.3991C>T	XP_006721054.1:p.Gln1331Ter
XM_006720992.3:c.1624C>T	XP_006721055.1:p.Gln542Ter
XM_011522766.3:c.3745C>T	XP_011521068.1:p.Gln1249Ter
XM_011522767.2:c.3016C>T	XP_011521069.1:p.Gln1006Ter
XM_017023910.1:c.3991C>T	XP_016879399.1:p.Gln1331Ter
XM_017023911.1:c.2176C>T	XP_016879400.1:p.Gln726Ter
NM_014714.4:c.3991C>T MANE Select	NP_055529.2:p.Gln1331Ter