Canonical Allele Identifier: CA112004343
Gene: SLC25A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2637533
ClinVar RCV Id: RCV003404831
dbSNP Id: rs752939660
gnomAD v2: 4-186064512-C-A
gnomAD v3: 4-185143358-C-A
gnomAD v4: 4-185143358-C-A
MyVariant Identifiers: chr4:g.186064512C>A (hg19) chr4:g.185143358C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185143358C>A , CM000666.2:g.185143358C>A GRCh38
NC_000004.11:g.186064512C>A , CM000666.1:g.186064512C>A GRCh37
NC_000004.10:g.186301506C>A NCBI36
NG_013001.1:g.5096C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.-15C>A MANE Select ENSP00000281456.5:n.-15C>A
ENST00000281456.10:c.-15C>A ENSP00000281456.5:n.-15C>A
ENST00000491736.1:c.-15C>A ENSP00000476711.1:n.-15C>A
NM_001151.3:c.-15C>A NP_001142.2:n.-15C>A
NM_001151.4:c.-15C>A MANE Select NP_001142.2:n.-15C>A
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