Canonical Allele Identifier: CA112004279

Gene: SLC25A4

Linked Data

• ClinVar Variation Id: 902042
• ClinVar RCV Id: RCV001148285 ; RCV002491434
• dbSNP Id: rs1003618782
• gnomAD v2: 4-186064462-C-T
• gnomAD v3: 4-185143308-C-T
• gnomAD v4: 4-185143308-C-T
• MyVariant Identifiers: chr4:g.186064462C>T (hg19) ; chr4:g.185143308C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.185143308C>T , CM000666.2:g.185143308C>T	GRCh38
NC_000004.11:g.186064462C>T , CM000666.1:g.186064462C>T	GRCh37
NC_000004.10:g.186301456C>T	NCBI36
NG_013001.1:g.5046C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281456.11:c.-65C>T MANE Select	ENSP00000281456.5:n.-65C>T
ENST00000281456.10:c.-65C>T	ENSP00000281456.5:n.-65C>T
ENST00000491736.1:c.-65C>T	ENSP00000476711.1:n.-65C>T
NM_001151.3:c.-65C>T	NP_001142.2:n.-65C>T
NM_001151.4:c.-65C>T MANE Select	NP_001142.2:n.-65C>T