Canonical Allele Identifier: CA2147731325
Gene: IFT43 HGNC NCBI

Linked Data

dbSNP Id: rs1566690478
gnomAD v4: 14-75985714-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75985714A>G , CM000676.2:g.75985714A>G GRCh38
NC_000014.8:g.76452057A>G , CM000676.1:g.76452057A>G GRCh37
NC_000014.7:g.75521810A>G NCBI36
NG_011715.1:g.1036T>C , LRG_399:g.1036T>C
NG_031957.1:g.4962A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555677.5:n.90-3171A>G
Search 100 bp 5'
Search 100 bp 3'