Canonical Allele Identifier: CA708629865
Gene: IFT43 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.75985693A>G
GRCh37 chr14:g.76452036A>G
gnomAD v3:
14:75985693 A / G
gnomAD v4:
chr14-75985693-A-G
Joint Max Group AF 0.00002585 (NFE)
Genomes Max Group AF 0.00001973 (NFE)
Exomes Max Group AF 0.00002394 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75985693A>G , CM000676.2:g.75985693A>G GRCh38
NC_000014.8:g.76452036A>G , CM000676.1:g.76452036A>G GRCh37
NC_000014.7:g.75521789A>G NCBI36
NG_011715.1:g.1057T>C , LRG_399:g.1057T>C
NG_031957.1:g.4941A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555677.5:n.90-3192A>G
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