Canonical Allele Identifier: CA112009610

Gene: SLC25A4

Linked Data

• ClinVar Variation Id: 900427
• ClinVar RCV Id: RCV001145621 ; RCV002497563
• dbSNP Id: rs769378373
• gnomAD v2: 4-186070741-C-T
• gnomAD v3: 4-185149587-C-T
• gnomAD v4: 4-185149587-C-T
• MyVariant Identifiers: chr4:g.186070741C>T (hg19) ; chr4:g.185149587C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.185149587C>T , CM000666.2:g.185149587C>T	GRCh38
NC_000004.11:g.186070741C>T , CM000666.1:g.186070741C>T	GRCh37
NC_000004.10:g.186307735C>T	NCBI36
NG_013001.1:g.11325C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281456.11:c.*2616C>T MANE Select	ENSP00000281456.5:n.*2616C>T
ENST00000281456.10:c.*2616C>T	ENSP00000281456.5:n.*2616C>T
NM_001151.3:c.*2616C>T	NP_001142.2:n.*2616C>T
NM_001151.4:c.*2616C>T MANE Select	NP_001142.2:n.*2616C>T