Canonical Allele Identifier: CA390472786

Gene: IFT43

Linked Data

• ClinVar Variation Id: 488649
• ClinVar RCV Id: RCV000578472 ; RCV001206016 ; RCV000851214
• dbSNP Id: rs769724508
• gnomAD v2: 14-76452131-T-A
• gnomAD v3: 14-75985788-T-A
• gnomAD v4: 14-75985788-T-A
• MyVariant Identifiers: chr14:g.76452131T>A (hg19) ; chr14:g.75985788T>A (hg38)
• PubMed: PMID:28400947

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75985788T>A , CM000676.2:g.75985788T>A	GRCh38
NC_000014.8:g.76452131T>A , CM000676.1:g.76452131T>A	GRCh37
NC_000014.7:g.75521884T>A	NCBI36
NG_011715.1:g.962A>T , LRG_399:g.962A>T
NG_031957.1:g.5036T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314067.11:c.2T>A MANE Select	ENSP00000324177.6:p.Met1Lys
ENST00000679083.1:c.-245T>A	ENSP00000504736.1:n.-245T>A
ENST00000238628.10:c.2T>A	ENSP00000238628.6:p.Met1Lys
ENST00000314067.10:c.2T>A	ENSP00000324177.6:p.Met1Lys
ENST00000542766.5:c.2T>A	ENSP00000440064.1:p.Met1Lys
ENST00000554026.5:n.9T>A
ENST00000555305.5:n.9T>A
ENST00000555370.5:c.2T>A	ENSP00000452051.1:p.Met1Lys
ENST00000555677.5:n.90-3097T>A
ENST00000556742.1:c.2T>A	ENSP00000451096.1:p.Met1Lys
NM_001102564.1:c.2T>A	NP_001096034.1:p.Met1Lys
NM_001255995.1:c.2T>A	NP_001242924.1:p.Met1Lys
NM_052873.2:c.2T>A	NP_443105.2:p.Met1Lys
NR_045664.1:n.36T>A
NR_045665.1:n.36T>A
NM_001102564.2:c.2T>A	NP_001096034.1:p.Met1Lys
NM_001255995.2:c.2T>A	NP_001242924.1:p.Met1Lys
NM_052873.3:c.2T>A	NP_443105.2:p.Met1Lys
NM_001102564.3:c.2T>A MANE Select	NP_001096034.1:p.Met1Lys
NM_001255995.3:c.2T>A	NP_001242924.1:p.Met1Lys
NR_045664.2:n.26T>A
NR_045665.2:n.26T>A