Canonical Allele Identifier: CA7280691

Gene: IFT43

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76022381G>A , CM000676.2:g.76022381G>A	GRCh38
NC_000014.8:g.76488724G>A , CM000676.1:g.76488724G>A	GRCh37
NC_000014.7:g.75558477G>A	NCBI36
NG_031957.1:g.41629G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314067.11:c.202G>A MANE Select	ENSP00000324177.6:p.Val68Met
ENST00000679083.1:c.139G>A	ENSP00000504736.1:p.Val47Met
ENST00000238628.10:c.202G>A	ENSP00000238628.6:p.Val68Met
ENST00000314067.10:c.202G>A	ENSP00000324177.6:p.Val68Met
ENST00000542766.5:c.202G>A	ENSP00000440064.1:p.Val68Met
ENST00000553338.1:n.663G>A
ENST00000553438.1:n.57G>A
ENST00000554026.5:n.209G>A
ENST00000555305.5:n.209G>A
ENST00000555370.5:c.*260G>A	ENSP00000452051.1:n.*260G>A
ENST00000555677.5:n.237G>A
ENST00000556742.1:c.202G>A	ENSP00000451096.1:p.Val68Met
NM_001102564.1:c.202G>A	NP_001096034.1:p.Val68Met
NM_001255995.1:c.202G>A	NP_001242924.1:p.Val68Met
NM_052873.2:c.202G>A	NP_443105.2:p.Val68Met
NR_045664.1:n.236G>A
NR_045665.1:n.236G>A
NM_001102564.2:c.202G>A	NP_001096034.1:p.Val68Met
NM_001255995.2:c.202G>A	NP_001242924.1:p.Val68Met
NM_052873.3:c.202G>A	NP_443105.2:p.Val68Met
NM_001102564.3:c.202G>A MANE Select	NP_001096034.1:p.Val68Met
NM_001255995.3:c.202G>A	NP_001242924.1:p.Val68Met
NR_045664.2:n.226G>A
NR_045665.2:n.226G>A