Canonical Allele Identifier: CA10620579

Gene: SLC25A4

Linked Data

• ClinVar Variation Id: 348281
• ClinVar RCV Id: RCV000389531 ; RCV002480214
• dbSNP Id: rs371093501
• gnomAD v2: 4-186070949-G-C
• gnomAD v3: 4-185149795-G-C
• gnomAD v4: 4-185149795-G-C
• MyVariant Identifiers: chr4:g.186070949G>C (hg19) ; chr4:g.185149795G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.185149795G>C , CM000666.2:g.185149795G>C	GRCh38
NC_000004.11:g.186070949G>C , CM000666.1:g.186070949G>C	GRCh37
NC_000004.10:g.186307943G>C	NCBI36
NG_013001.1:g.11533G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281456.11:c.*2824G>C MANE Select	ENSP00000281456.5:n.*2824G>C
ENST00000281456.10:c.*2824G>C	ENSP00000281456.5:n.*2824G>C
NM_001151.3:c.*2824G>C	NP_001142.2:n.*2824G>C
NM_001151.4:c.*2824G>C MANE Select	NP_001142.2:n.*2824G>C