Canonical Allele Identifier: CA320865
Gene: SLC25A4 HGNC NCBI
gnomAD v2:
4:186066327 AC / A
gnomAD v3:
4:185145173 AC / A
gnomAD v4:
chr4-185145173-AC-A
Joint Max Group AF 0.00000292 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar Allele:
211024
ClinVar RCV:
RCV000196453
RCV003323449
ClinVar Variation:
215174
dbSNP:
863224209
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185145175del , CM000666.2:g.185145175del GRCh38
NC_000004.11:g.186066329del , CM000666.1:g.186066329del GRCh37
NC_000004.10:g.186303323del NCBI36
NG_013001.1:g.6913del

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.523del MANE Select ENSP00000281456.5:p.Gln175ArgfsTer?
ENST00000281456.10:c.523del ENSP00000281456.5:p.Gln175ArgfsTer?
ENST00000491736.1:c.523del ENSP00000476711.1:p.Gln175ArgfsTer29
NM_001151.3:c.523del NP_001142.2:p.Gln175ArgfsTer?
NM_001151.4:c.523del MANE Select NP_001142.2:p.Gln175ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'