Canonical Allele Identifier: CA342774

Gene: IFT43

Linked Data

• ClinVar Variation Id: 31098
• ClinVar RCV Id: RCV000024093 ; RCV001852564
• dbSNP Id: rs387907107
• gnomAD v4: 14-75985787-A-G
• MyVariant Identifiers: chr14:g.76452130A>G (hg19) ; chr14:g.75985787A>G (hg38)
• PubMed: PMID:21378380 ; PMID:24027799

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75985787A>G , CM000676.2:g.75985787A>G	GRCh38
NC_000014.8:g.76452130A>G , CM000676.1:g.76452130A>G	GRCh37
NC_000014.7:g.75521883A>G	NCBI36
NG_011715.1:g.963T>C , LRG_399:g.963T>C
NG_031957.1:g.5035A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314067.11:c.1A>G MANE Select	ENSP00000324177.6:p.Met1Val
ENST00000679083.1:c.-246A>G	ENSP00000504736.1:n.-246A>G
ENST00000238628.10:c.1A>G	ENSP00000238628.6:p.Met1Val
ENST00000314067.10:c.1A>G	ENSP00000324177.6:p.Met1Val
ENST00000542766.5:c.1A>G	ENSP00000440064.1:p.Met1Val
ENST00000554026.5:n.8A>G
ENST00000555305.5:n.8A>G
ENST00000555370.5:c.1A>G	ENSP00000452051.1:p.Met1Val
ENST00000555677.5:n.90-3098A>G
ENST00000556742.1:c.1A>G	ENSP00000451096.1:p.Met1Val
NM_001102564.1:c.1A>G	NP_001096034.1:p.Met1Val
NM_001255995.1:c.1A>G	NP_001242924.1:p.Met1Val
NM_052873.2:c.1A>G	NP_443105.2:p.Met1Val
NR_045664.1:n.35A>G
NR_045665.1:n.35A>G
NM_001102564.2:c.1A>G	NP_001096034.1:p.Met1Val
NM_001255995.2:c.1A>G	NP_001242924.1:p.Met1Val
NM_052873.3:c.1A>G	NP_443105.2:p.Met1Val
NM_001102564.3:c.1A>G MANE Select	NP_001096034.1:p.Met1Val
NM_001255995.3:c.1A>G	NP_001242924.1:p.Met1Val
NR_045664.2:n.25A>G
NR_045665.2:n.25A>G