Canonical Allele Identifier: CA557032735
Gene: SLC25A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2107821
ClinVar RCV Id: RCV003017523
dbSNP Id: rs1439040816
gnomAD v2: 4-186064645-C-T
gnomAD v4: 4-185143491-C-T
MyVariant Identifiers: chr4:g.186064645C>T (hg19) chr4:g.185143491C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185143491C>T , CM000666.2:g.185143491C>T GRCh38
NC_000004.11:g.186064645C>T , CM000666.1:g.186064645C>T GRCh37
NC_000004.10:g.186301639C>T NCBI36
NG_013001.1:g.5229C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.111+8C>T MANE Select ENSP00000281456.5:n.111+8C>T
ENST00000281456.10:c.111+8C>T ENSP00000281456.5:n.111+8C>T
ENST00000491736.1:c.111+8C>T ENSP00000476711.1:n.111+8C>T
NM_001151.3:c.111+8C>T NP_001142.2:n.111+8C>T
NM_001151.4:c.111+8C>T MANE Select NP_001142.2:n.111+8C>T
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