Canonical Allele Identifier: CA7280808

Gene: IFT43

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76076693T>C , CM000676.2:g.76076693T>C	GRCh38
NC_000014.8:g.76543036T>C , CM000676.1:g.76543036T>C	GRCh37
NC_000014.7:g.75612789T>C	NCBI36
NG_031957.1:g.95941T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001102564.3:c.296-5602T>C MANE Select	NP_001096034.1:n.296-5602T>C
ENST00000314067.11:c.296-5602T>C MANE Select	ENSP00000324177.6:n.296-5602T>C
NM_001102564.1:c.296-5602T>C	NP_001096034.1:n.296-5602T>C
NM_001102564.2:c.296-5602T>C	NP_001096034.1:n.296-5602T>C
NM_052873.2:c.310+2T>C	NP_443105.2:n.310+2T>C
NM_052873.3:c.310+2T>C	NP_443105.2:n.310+2T>C
NR_045664.1:n.250-5602T>C
NR_045664.2:n.240-5602T>C
NR_045665.1:n.330-5602T>C
NR_045665.2:n.320-5602T>C
ENST00000238628.10:c.310+2T>C	ENSP00000238628.6:n.310+2T>C
ENST00000314067.10:c.296-5602T>C	ENSP00000324177.6:n.296-5602T>C
ENST00000542766.5:c.296-5602T>C	ENSP00000440064.1:n.296-5602T>C
ENST00000553438.1:n.142-5602T>C
ENST00000554026.5:n.397+2T>C
ENST00000555305.5:n.303-5602T>C
ENST00000679083.1:c.233-5602T>C	ENSP00000504736.1:n.233-5602T>C