Canonical Allele Identifier: CA792209888
Gene: SLC25A4 HGNC NCBI

Linked Data

dbSNP Id: rs1327762176
gnomAD v3: 4-185145039-CT-C
gnomAD v4: 4-185145039-CT-C
MyVariant Identifiers: chr4:g.186066194del (hg19) chr4:g.185145040del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185145042del , CM000666.2:g.185145042del GRCh38
NC_000004.11:g.186066196del , CM000666.1:g.186066196del GRCh37
NC_000004.10:g.186303190del NCBI36
NG_013001.1:g.6780del

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.390del MANE Select ENSP00000281456.5:p.Phe130LeufsTer?
ENST00000281456.10:c.390del ENSP00000281456.5:p.Phe130LeufsTer?
ENST00000491736.1:c.390del ENSP00000476711.1:p.Phe130LeufsTer?
NM_001151.3:c.390del NP_001142.2:p.Phe130LeufsTer?
NM_001151.4:c.390del MANE Select NP_001142.2:p.Phe130LeufsTer?
Search 100 bp 5'
Search 100 bp 3'