Canonical Allele Identifier: CA615075757
Gene: IFT43 HGNC NCBI

Linked Data

dbSNP Id: rs1566690478
gnomAD v2: 14-76452057-A-T
gnomAD v4: 14-75985714-A-T
MyVariant Identifiers: chr14:g.76452057A>T (hg19)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000555677.5:n.90-3171A>T
Search 100 bp 5'
Search 100 bp 3'