Canonical Allele Identifier: CA3156477

Gene: SLC25A4

Linked Data

• ClinVar Variation Id: 2072006
• ClinVar RCV Id: RCV002949457 ; RCV002949458
• dbSNP Id: rs137936792
• ExAC: 4:186066287 A / G
• gnomAD v2: 4-186066287-A-G
• gnomAD v3: 4-185145133-A-G
• gnomAD v4: 4-185145133-A-G
• MyVariant Identifiers: chr4:g.186066287A>G (hg19) ; chr4:g.185145133A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.185145133A>G , CM000666.2:g.185145133A>G	GRCh38
NC_000004.11:g.186066287A>G , CM000666.1:g.186066287A>G	GRCh37
NC_000004.10:g.186303281A>G	NCBI36
NG_013001.1:g.6871A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281456.11:c.481A>G MANE Select	ENSP00000281456.5:p.Ile161Val
ENST00000281456.10:c.481A>G	ENSP00000281456.5:p.Ile161Val
ENST00000491736.1:c.481A>G	ENSP00000476711.1:p.Ile161Val
NM_001151.3:c.481A>G	NP_001142.2:p.Ile161Val
NM_001151.4:c.481A>G MANE Select	NP_001142.2:p.Ile161Val