Canonical Allele Identifier: CA3156431
Gene: SLC25A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1308558
ClinVar RCV Id: RCV001763470
dbSNP Id: rs201501984
ExAC: 4:186065948 G / C
gnomAD v2: 4-186065948-G-C
gnomAD v3: 4-185144794-G-C
gnomAD v4: 4-185144794-G-C
MyVariant Identifiers: chr4:g.186065948G>C (hg19) chr4:g.185144794G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185144794G>C , CM000666.2:g.185144794G>C GRCh38
NC_000004.11:g.186065948G>C , CM000666.1:g.186065948G>C GRCh37
NC_000004.10:g.186302942G>C NCBI36
NG_013001.1:g.6532G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.142G>C MANE Select ENSP00000281456.5:p.Glu48Gln
ENST00000281456.10:c.142G>C ENSP00000281456.5:p.Glu48Gln
ENST00000491736.1:c.142G>C ENSP00000476711.1:p.Glu48Gln
NM_001151.3:c.142G>C NP_001142.2:p.Glu48Gln
NM_001151.4:c.142G>C MANE Select NP_001142.2:p.Glu48Gln
Search 100 bp 5'
Search 100 bp 3'