Canonical Allele Identifier: CA16604720
Gene: SLC25A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 379549
ClinVar RCV Id: RCV000425136
dbSNP Id: rs1057520639
gnomAD v4: 4-185143384-C-A
MyVariant Identifiers: chr4:g.186064538C>A (hg19) chr4:g.185143384C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185143384C>A , CM000666.2:g.185143384C>A GRCh38
NC_000004.11:g.186064538C>A , CM000666.1:g.186064538C>A GRCh37
NC_000004.10:g.186301532C>A NCBI36
NG_013001.1:g.5122C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.12C>A MANE Select ENSP00000281456.5:p.His4Gln
ENST00000281456.10:c.12C>A ENSP00000281456.5:p.His4Gln
ENST00000491736.1:c.12C>A ENSP00000476711.1:p.His4Gln
NM_001151.3:c.12C>A NP_001142.2:p.His4Gln
NM_001151.4:c.12C>A MANE Select NP_001142.2:p.His4Gln
Search 100 bp 5'
Search 100 bp 3'