Canonical Allele Identifier: CA708629859
Gene: IFT43 HGNC NCBI

Linked Data

dbSNP Id: rs1267226707
gnomAD v3: 14-75985688-T-G
gnomAD v4: 14-75985688-T-G
MyVariant Identifiers: chr14:g.76452031T>G (hg19) chr14:g.75985688T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75985688T>G , CM000676.2:g.75985688T>G GRCh38
NC_000014.8:g.76452031T>G , CM000676.1:g.76452031T>G GRCh37
NC_000014.7:g.75521784T>G NCBI36
NG_011715.1:g.1062A>C , LRG_399:g.1062A>C
NG_031957.1:g.4936T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555677.5:n.90-3197T>G
Search 100 bp 5'
Search 100 bp 3'