Canonical Allele Identifier: CA2575584071
Gene: IFT43 HGNC NCBI

Linked Data

gnomAD v4: 14-75985713-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75985713G>A , CM000676.2:g.75985713G>A GRCh38
NC_000014.8:g.76452056G>A , CM000676.1:g.76452056G>A GRCh37
NC_000014.7:g.75521809G>A NCBI36
NG_011715.1:g.1037C>T , LRG_399:g.1037C>T
NG_031957.1:g.4961G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555677.5:n.90-3172G>A
Search 100 bp 5'
Search 100 bp 3'