Canonical Allele Identifier: CA442866974
Gene: SLC25A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2730955
ClinVar RCV Id: RCV003579884
dbSNP Id: rs1579209559
gnomAD v4: 4-185144976-G-A
COSMIC: COSM4158943
MyVariant Identifiers: chr4:g.186066130G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185144976G>A , CM000666.2:g.185144976G>A GRCh38
NC_000004.11:g.186066130G>A , CM000666.1:g.186066130G>A GRCh37
NC_000004.10:g.186303124G>A NCBI36
NG_013001.1:g.6714G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.324G>A MANE Select ENSP00000281456.5:p.Gln108=
ENST00000281456.10:c.324G>A ENSP00000281456.5:p.Gln108=
ENST00000491736.1:c.324G>A ENSP00000476711.1:p.Gln108=
NM_001151.3:c.324G>A NP_001142.2:p.Gln108=
NM_001151.4:c.324G>A MANE Select NP_001142.2:p.Gln108=
Search 100 bp 5'
Search 100 bp 3'