Canonical Allele Identifier: CA7280641
Gene: IFT43 HGNC NCBI

Linked Data

ClinVar Variation Id: 489395
dbSNP Id: rs140366557

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75988930G>A , CM000676.2:g.75988930G>A GRCh38
NC_000014.8:g.76455273G>A , CM000676.1:g.76455273G>A GRCh37
NC_000014.7:g.75525026G>A NCBI36
NG_031957.1:g.8178G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000314067.11:c.100G>A MANE Select ENSP00000324177.6:p.Glu34Lys
ENST00000679083.1:c.37G>A ENSP00000504736.1:p.Glu13Lys
ENST00000238628.10:c.100G>A ENSP00000238628.6:p.Glu34Lys
ENST00000314067.10:c.100G>A ENSP00000324177.6:p.Glu34Lys
ENST00000542766.5:c.100G>A ENSP00000440064.1:p.Glu34Lys
ENST00000553338.1:n.561G>A
ENST00000554026.5:n.107G>A
ENST00000555305.5:n.107G>A
ENST00000555370.5:c.*158G>A ENSP00000452051.1:n.*158G>A
ENST00000555677.5:n.135G>A
ENST00000556742.1:c.100G>A ENSP00000451096.1:p.Glu34Lys
NM_001102564.1:c.100G>A NP_001096034.1:p.Glu34Lys
NM_001255995.1:c.100G>A NP_001242924.1:p.Glu34Lys
NM_052873.2:c.100G>A NP_443105.2:p.Glu34Lys
NR_045664.1:n.134G>A
NR_045665.1:n.134G>A
NM_001102564.2:c.100G>A NP_001096034.1:p.Glu34Lys
NM_001255995.2:c.100G>A NP_001242924.1:p.Glu34Lys
NM_052873.3:c.100G>A NP_443105.2:p.Glu34Lys
NM_001102564.3:c.100G>A MANE Select NP_001096034.1:p.Glu34Lys
NM_001255995.3:c.100G>A NP_001242924.1:p.Glu34Lys
NR_045664.2:n.124G>A
NR_045665.2:n.124G>A