Canonical Allele Identifier: CA7280790

Gene: IFT43

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76076614A>G , CM000676.2:g.76076614A>G	GRCh38
NC_000014.8:g.76542957A>G , CM000676.1:g.76542957A>G	GRCh37
NC_000014.7:g.75612710A>G	NCBI36
NG_031957.1:g.95862A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001102564.3:c.296-5681A>G MANE Select	NP_001096034.1:n.296-5681A>G
ENST00000314067.11:c.296-5681A>G MANE Select	ENSP00000324177.6:n.296-5681A>G
NM_001102564.1:c.296-5681A>G	NP_001096034.1:n.296-5681A>G
NM_001102564.2:c.296-5681A>G	NP_001096034.1:n.296-5681A>G
NM_052873.2:c.233A>G	NP_443105.2:p.Lys78Arg
NM_052873.3:c.233A>G	NP_443105.2:p.Lys78Arg
NR_045664.1:n.250-5681A>G
NR_045664.2:n.240-5681A>G
NR_045665.1:n.330-5681A>G
NR_045665.2:n.320-5681A>G
ENST00000238628.10:c.233A>G	ENSP00000238628.6:p.Lys78Arg
ENST00000314067.10:c.296-5681A>G	ENSP00000324177.6:n.296-5681A>G
ENST00000542766.5:c.296-5681A>G	ENSP00000440064.1:n.296-5681A>G
ENST00000553438.1:n.142-5681A>G
ENST00000554026.5:n.320A>G
ENST00000555305.5:n.303-5681A>G
ENST00000679083.1:c.233-5681A>G	ENSP00000504736.1:n.233-5681A>G