Canonical Allele Identifier: CA322970
Gene: SLC25A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 215172
ClinVar RCV Id: RCV000198462
dbSNP Id: rs863224208
gnomAD v2: 4-186068060-G-A
gnomAD v4: 4-185146906-G-A
MyVariant Identifiers: chr4:g.186068060G>A (hg19) chr4:g.185146906G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185146906G>A , CM000666.2:g.185146906G>A GRCh38
NC_000004.11:g.186068060G>A , CM000666.1:g.186068060G>A GRCh37
NC_000004.10:g.186305054G>A NCBI36
NG_013001.1:g.8644G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000281456.11:c.832G>A MANE Select ENSP00000281456.5:p.Val278Met
ENST00000281456.10:c.832G>A ENSP00000281456.5:p.Val278Met
ENST00000491736.1:c.*609G>A ENSP00000476711.1:n.*609G>A
NM_001151.3:c.832G>A NP_001142.2:p.Val278Met
NM_001151.4:c.832G>A MANE Select NP_001142.2:p.Val278Met
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