Canonical Allele Identifier: CA112005410
Gene: SLC25A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1182434
ClinVar RCV Id: RCV001540068
dbSNP Id: rs111595982
gnomAD v2: 4-186065817-C-CA
gnomAD v3: 4-185144663-C-CA
gnomAD v4: 4-185144663-C-CA
MyVariant Identifiers: chr4:g.186065818_186065819insA (hg19) chr4:g.186065817_186065818insA (hg19) chr4:g.185144664_185144665insA (hg38) chr4:g.185144663_185144664insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185144673dup , CM000666.2:g.185144673dup GRCh38
NC_000004.11:g.186065827dup , CM000666.1:g.186065827dup GRCh37
NC_000004.10:g.186302821dup NCBI36
NG_013001.1:g.6411dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.112-91dup MANE Select ENSP00000281456.5:n.112-91dup
ENST00000281456.10:c.112-91dup ENSP00000281456.5:n.112-91dup
ENST00000491736.1:c.112-91dup ENSP00000476711.1:n.112-91dup
NM_001151.3:c.112-91dup NP_001142.2:n.112-91dup
NM_001151.4:c.112-91dup MANE Select NP_001142.2:n.112-91dup
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