Canonical Allele Identifier: CA615074063

Gene: IFT43

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76082606C>A , CM000676.2:g.76082606C>A	GRCh38
NC_000014.8:g.76548949C>A , CM000676.1:g.76548949C>A	GRCh37
NC_000014.7:g.75618702C>A	NCBI36
NG_031957.1:g.101854C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001102564.3:c.369-11C>A MANE Select	NP_001096034.1:n.369-11C>A
ENST00000314067.11:c.369-11C>A MANE Select	ENSP00000324177.6:n.369-11C>A
NM_001102564.1:c.369-11C>A	NP_001096034.1:n.369-11C>A
NM_001102564.2:c.369-11C>A	NP_001096034.1:n.369-11C>A
NM_052873.2:c.384-11C>A	NP_443105.2:n.384-11C>A
NM_052873.3:c.384-11C>A	NP_443105.2:n.384-11C>A
NR_045664.1:n.323-11C>A
NR_045664.2:n.313-11C>A
NR_045665.1:n.403-11C>A
NR_045665.2:n.393-11C>A
ENST00000238628.10:c.384-11C>A	ENSP00000238628.6:n.384-11C>A
ENST00000314067.10:c.369-11C>A	ENSP00000324177.6:n.369-11C>A
ENST00000542766.5:c.369-11C>A	ENSP00000440064.1:n.369-11C>A
ENST00000553438.1:n.453C>A
ENST00000554026.5:n.709C>A
ENST00000555305.5:n.614C>A
ENST00000679083.1:c.306-11C>A	ENSP00000504736.1:n.306-11C>A