Canonical Allele Identifier: CA10618349

Gene: SLC25A4

Linked Data

• ClinVar Variation Id: 348243
• ClinVar RCV Id: RCV000327206 ; RCV000834844
• dbSNP Id: rs183128370
• gnomAD v2: 4-186064443-C-A
• gnomAD v3: 4-185143289-C-A
• gnomAD v4: 4-185143289-C-A
• MyVariant Identifiers: chr4:g.186064443C>A (hg19) ; chr4:g.185143289C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.185143289C>A , CM000666.2:g.185143289C>A	GRCh38
NC_000004.11:g.186064443C>A , CM000666.1:g.186064443C>A	GRCh37
NC_000004.10:g.186301437C>A	NCBI36
NG_013001.1:g.5027C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281456.11:c.-84C>A MANE Select	ENSP00000281456.5:n.-84C>A
ENST00000281456.10:c.-84C>A	ENSP00000281456.5:n.-84C>A
ENST00000491736.1:c.-84C>A	ENSP00000476711.1:n.-84C>A
NM_001151.3:c.-84C>A	NP_001142.2:n.-84C>A
NM_001151.4:c.-84C>A MANE Select	NP_001142.2:n.-84C>A