Canonical Allele Identifier: CA390472804

Gene: IFT43

Linked Data

• dbSNP Id: rs769058696
• gnomAD v2: 14-76452138-T-G
• gnomAD v3: 14-75985795-T-G
• gnomAD v4: 14-75985795-T-G
• MyVariant Identifiers: chr14:g.76452138T>G (hg19) ; chr14:g.75985795T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75985795T>G , CM000676.2:g.75985795T>G	GRCh38
NC_000014.8:g.76452138T>G , CM000676.1:g.76452138T>G	GRCh37
NC_000014.7:g.75521891T>G	NCBI36
NG_011715.1:g.955A>C , LRG_399:g.955A>C
NG_031957.1:g.5043T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314067.11:c.9T>G MANE Select	ENSP00000324177.6:p.Asp3Glu
ENST00000679083.1:c.-238T>G	ENSP00000504736.1:n.-238T>G
ENST00000238628.10:c.9T>G	ENSP00000238628.6:p.Asp3Glu
ENST00000314067.10:c.9T>G	ENSP00000324177.6:p.Asp3Glu
ENST00000542766.5:c.9T>G	ENSP00000440064.1:p.Asp3Glu
ENST00000553338.1:n.2T>G
ENST00000554026.5:n.16T>G
ENST00000555305.5:n.16T>G
ENST00000555370.5:c.9T>G	ENSP00000452051.1:p.Asp3Glu
ENST00000555677.5:n.90-3090T>G
ENST00000556742.1:c.9T>G	ENSP00000451096.1:p.Asp3Glu
NM_001102564.1:c.9T>G	NP_001096034.1:p.Asp3Glu
NM_001255995.1:c.9T>G	NP_001242924.1:p.Asp3Glu
NM_052873.2:c.9T>G	NP_443105.2:p.Asp3Glu
NR_045664.1:n.43T>G
NR_045665.1:n.43T>G
NM_001102564.2:c.9T>G	NP_001096034.1:p.Asp3Glu
NM_001255995.2:c.9T>G	NP_001242924.1:p.Asp3Glu
NM_052873.3:c.9T>G	NP_443105.2:p.Asp3Glu
NM_001102564.3:c.9T>G MANE Select	NP_001096034.1:p.Asp3Glu
NM_001255995.3:c.9T>G	NP_001242924.1:p.Asp3Glu
NR_045664.2:n.33T>G
NR_045665.2:n.33T>G