Canonical Allele Identifier: CA7280548
Gene: IFT43 HGNC NCBI

Linked Data

dbSNP Id: rs775876023
ExAC: 14:76452052 G / A
gnomAD v2: 14-76452052-G-A
gnomAD v3: 14-75985709-G-A
gnomAD v4: 14-75985709-G-A
MyVariant Identifiers: chr14:g.76452052G>A (hg19) chr14:g.75985709G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75985709G>A , CM000676.2:g.75985709G>A GRCh38
NC_000014.8:g.76452052G>A , CM000676.1:g.76452052G>A GRCh37
NC_000014.7:g.75521805G>A NCBI36
NG_011715.1:g.1041C>T , LRG_399:g.1041C>T
NG_031957.1:g.4957G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555677.5:n.90-3176G>A
Search 100 bp 5'
Search 100 bp 3'