Canonical Allele Identifier: CA615076858

Gene: IFT43

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75988997A>C , CM000676.2:g.75988997A>C	GRCh38
NC_000014.8:g.76455340A>C , CM000676.1:g.76455340A>C	GRCh37
NC_000014.7:g.75525093A>C	NCBI36
NG_031957.1:g.8245A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001102564.3:c.147+20A>C MANE Select	NP_001096034.1:n.147+20A>C
ENST00000314067.11:c.147+20A>C MANE Select	ENSP00000324177.6:n.147+20A>C
NM_001102564.1:c.147+20A>C	NP_001096034.1:n.147+20A>C
NM_001102564.2:c.147+20A>C	NP_001096034.1:n.147+20A>C
NM_001255995.1:c.147+20A>C	NP_001242924.1:n.147+20A>C
NM_001255995.2:c.147+20A>C	NP_001242924.1:n.147+20A>C
NM_001255995.3:c.147+20A>C	NP_001242924.1:n.147+20A>C
NM_052873.2:c.147+20A>C	NP_443105.2:n.147+20A>C
NM_052873.3:c.147+20A>C	NP_443105.2:n.147+20A>C
NR_045664.1:n.181+20A>C
NR_045664.2:n.171+20A>C
NR_045665.1:n.181+20A>C
NR_045665.2:n.171+20A>C
ENST00000238628.10:c.147+20A>C	ENSP00000238628.6:n.147+20A>C
ENST00000314067.10:c.147+20A>C	ENSP00000324177.6:n.147+20A>C
ENST00000542766.5:c.147+20A>C	ENSP00000440064.1:n.147+20A>C
ENST00000553338.1:n.608+20A>C
ENST00000554026.5:n.154+20A>C
ENST00000555305.5:n.154+20A>C
ENST00000555370.5:c.*205+20A>C	ENSP00000452051.1:n.*205+20A>C
ENST00000555677.5:n.182+20A>C
ENST00000556742.1:c.147+20A>C	ENSP00000451096.1:n.147+20A>C
ENST00000679083.1:c.84+20A>C	ENSP00000504736.1:n.84+20A>C