Canonical Allele Identifier: CA390472805

Gene: IFT43

Linked Data

• ClinVar Variation Id: 1525543
• ClinVar RCV Id: RCV002050380
• dbSNP Id: rs1309782466
• gnomAD v2: 14-76452139-T-A
• gnomAD v3: 14-75985796-T-A
• gnomAD v4: 14-75985796-T-A
• MyVariant Identifiers: chr14:g.76452139T>A (hg19) ; chr14:g.75985796T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75985796T>A , CM000676.2:g.75985796T>A	GRCh38
NC_000014.8:g.76452139T>A , CM000676.1:g.76452139T>A	GRCh37
NC_000014.7:g.75521892T>A	NCBI36
NG_011715.1:g.954A>T , LRG_399:g.954A>T
NG_031957.1:g.5044T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314067.11:c.10T>A MANE Select	ENSP00000324177.6:p.Leu4Met
ENST00000679083.1:c.-237T>A	ENSP00000504736.1:n.-237T>A
ENST00000238628.10:c.10T>A	ENSP00000238628.6:p.Leu4Met
ENST00000314067.10:c.10T>A	ENSP00000324177.6:p.Leu4Met
ENST00000542766.5:c.10T>A	ENSP00000440064.1:p.Leu4Met
ENST00000553338.1:n.3T>A
ENST00000554026.5:n.17T>A
ENST00000555305.5:n.17T>A
ENST00000555370.5:c.10T>A	ENSP00000452051.1:p.Leu4Met
ENST00000555677.5:n.90-3089T>A
ENST00000556742.1:c.10T>A	ENSP00000451096.1:p.Leu4Met
NM_001102564.1:c.10T>A	NP_001096034.1:p.Leu4Met
NM_001255995.1:c.10T>A	NP_001242924.1:p.Leu4Met
NM_052873.2:c.10T>A	NP_443105.2:p.Leu4Met
NR_045664.1:n.44T>A
NR_045665.1:n.44T>A
NM_001102564.2:c.10T>A	NP_001096034.1:p.Leu4Met
NM_001255995.2:c.10T>A	NP_001242924.1:p.Leu4Met
NM_052873.3:c.10T>A	NP_443105.2:p.Leu4Met
NM_001102564.3:c.10T>A MANE Select	NP_001096034.1:p.Leu4Met
NM_001255995.3:c.10T>A	NP_001242924.1:p.Leu4Met
NR_045664.2:n.34T>A
NR_045665.2:n.34T>A