Canonical Allele Identifier: CA7280549
Gene: IFT43 HGNC NCBI

Linked Data

dbSNP Id: rs763211565
ExAC: 14:76452056 G / C
gnomAD v2: 14-76452056-G-C
gnomAD v3: 14-75985713-G-C
gnomAD v4: 14-75985713-G-C
MyVariant Identifiers: chr14:g.76452056G>C (hg19) chr14:g.75985713G>C (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

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