Canonical Allele Identifier: CA3156551
Gene: SLC25A4 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.185145867G>A
GRCh37 chr4:g.186067021G>A
Revel Score:
ENST00000281456 (MANE Select) 0.706
gnomAD v2:
4:186067021 G / A
gnomAD v4:
chr4-185145867-G-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185145867G>A , CM000666.2:g.185145867G>A GRCh38
NC_000004.11:g.186067021G>A , CM000666.1:g.186067021G>A GRCh37
NC_000004.10:g.186304015G>A NCBI36
NG_013001.1:g.7605G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.707G>A MANE Select ENSP00000281456.5:p.Arg236His
ENST00000281456.10:c.707G>A ENSP00000281456.5:p.Arg236His
ENST00000491736.1:c.*484G>A ENSP00000476711.1:n.*484G>A
NM_001151.3:c.707G>A NP_001142.2:p.Arg236His
NM_001151.4:c.707G>A MANE Select NP_001142.2:p.Arg236His
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