Canonical Allele Identifier: CA320996
Gene: SLC25A4 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.185145023G>A
GRCh37 chr4:g.186066177G>A
Revel Score:
ENST00000281456 (MANE Select) 0.927
gnomAD v3:
4:185145023 G / A
gnomAD v4:
chr4-185145023-G-A
Joint Max Group AF 0.00000359 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000262 (NFE)
ClinVar RCV:
RCV000196570
ClinVar Variation:
215171
dbSNP:
863224207
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185145023G>A , CM000666.2:g.185145023G>A GRCh38
NC_000004.11:g.186066177G>A , CM000666.1:g.186066177G>A GRCh37
NC_000004.10:g.186303171G>A NCBI36
NG_013001.1:g.6761G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.371G>A MANE Select ENSP00000281456.5:p.Gly124Glu
ENST00000281456.10:c.371G>A ENSP00000281456.5:p.Gly124Glu
ENST00000491736.1:c.371G>A ENSP00000476711.1:p.Gly124Glu
NM_001151.3:c.371G>A NP_001142.2:p.Gly124Glu
NM_001151.4:c.371G>A MANE Select NP_001142.2:p.Gly124Glu
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