Canonical Allele Identifier: CA2573151741

Gene: IFT140

Linked Data

• ClinVar Variation Id: 1690563
• ClinVar RCV Id: RCV002252981
• dbSNP Id: rs2141088947

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511010dup , CM000678.2:g.1511010dup	GRCh38
NC_000016.9:g.1561011dup , CM000678.1:g.1561011dup	GRCh37
NC_000016.8:g.1501012dup	NCBI36
NG_032783.1:g.106099dup
NG_050910.1:g.22667dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4323dup MANE Select	ENSP00000406012.2:p.Asn1442GlnfsTer19
ENST00000361339.9:c.1905dup	ENSP00000354895.5:p.Asn636GlnfsTer19
ENST00000397417.6:c.*2761dup	ENSP00000380562.2:n.*2761dup
ENST00000426508.6:c.4323dup	ENSP00000406012.2:p.Asn1442GlnfsTer19
ENST00000565298.5:n.4147dup
NM_014714.3:c.4323dup	NP_055529.2:p.Asn1442GlnfsTer19
XM_006720989.2:c.4323dup	XP_006721052.1:p.Asn1442GlnfsTer19
XM_006720990.2:c.4323dup	XP_006721053.1:p.Asn1442GlnfsTer19
XM_006720991.2:c.4323dup	XP_006721054.1:p.Asn1442GlnfsTer19
XM_006720992.2:c.1956dup	XP_006721055.1:p.Asn653GlnfsTer19
XM_011522766.1:c.4077dup	XP_011521068.1:p.Asn1360GlnfsTer19
XM_011522767.1:c.3348dup	XP_011521069.1:p.Asn1117GlnfsTer19
XM_006720990.3:c.4323dup	XP_006721053.1:p.Asn1442GlnfsTer19
XM_006720991.3:c.4323dup	XP_006721054.1:p.Asn1442GlnfsTer19
XM_006720992.3:c.1956dup	XP_006721055.1:p.Asn653GlnfsTer19
XM_011522766.3:c.4077dup	XP_011521068.1:p.Asn1360GlnfsTer19
XM_011522767.2:c.3348dup	XP_011521069.1:p.Asn1117GlnfsTer19
XM_017023910.1:c.4323dup	XP_016879399.1:p.Asn1442GlnfsTer19
XM_017023911.1:c.2508dup	XP_016879400.1:p.Asn837GlnfsTer19
NM_014714.4:c.4323dup MANE Select	NP_055529.2:p.Asn1442GlnfsTer19