Canonical Allele Identifier: CA2147731315
Gene: IFT43 HGNC NCBI

Linked Data

dbSNP Id: rs768654008
gnomAD v4: 14-75985691-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75985691G>T , CM000676.2:g.75985691G>T GRCh38
NC_000014.8:g.76452034G>T , CM000676.1:g.76452034G>T GRCh37
NC_000014.7:g.75521787G>T NCBI36
NG_011715.1:g.1059C>A , LRG_399:g.1059C>A
NG_031957.1:g.4939G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555677.5:n.90-3194G>T
Search 100 bp 5'
Search 100 bp 3'