Canonical Allele Identifier: CA112005422
Gene: SLC25A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1217965
ClinVar RCV Id: RCV001590224
dbSNP Id: rs111947439
gnomAD v2: 4-186065818-A-C
gnomAD v3: 4-185144664-A-C
gnomAD v4: 4-185144664-A-C
MyVariant Identifiers: chr4:g.186065818A>C (hg19) chr4:g.185144664A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185144664A>C , CM000666.2:g.185144664A>C GRCh38
NC_000004.11:g.186065818A>C , CM000666.1:g.186065818A>C GRCh37
NC_000004.10:g.186302812A>C NCBI36
NG_013001.1:g.6402A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.112-100A>C MANE Select ENSP00000281456.5:n.112-100A>C
ENST00000281456.10:c.112-100A>C ENSP00000281456.5:n.112-100A>C
ENST00000491736.1:c.112-100A>C ENSP00000476711.1:n.112-100A>C
NM_001151.3:c.112-100A>C NP_001142.2:n.112-100A>C
NM_001151.4:c.112-100A>C MANE Select NP_001142.2:n.112-100A>C
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