Canonical Allele Identifier: CA253314
Gene: SLC26A4 HGNC NCBI
SLC26A4-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4838
ClinVar RCV Id: RCV000005109 RCV000005110 RCV000154443 RCV000412985 RCV001375210 RCV004528080
dbSNP Id: rs60284988
gnomAD v2: 7-107301201-T-C
gnomAD v3: 7-107660756-T-C
gnomAD v4: 7-107660756-T-C
MyVariant Identifiers: chr7:g.107301201T>C (hg19) chr7:g.107660756T>C (hg38)
PubMed: PMID:17503324 PMID:19204907 PMID:19787632 PMID:21045265 PMID:23208854 PMID:23965030 PMID:25910213 PMID:25991456
ERepo: CA253314/MONDO:0010134/005
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107660756T>C , CM000669.2:g.107660756T>C GRCh38
NC_000007.13:g.107301201T>C , CM000669.1:g.107301201T>C GRCh37
NC_000007.12:g.107088437T>C NCBI36
NG_008489.1:g.5122T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265715.7:c.-103T>C (SLC26A4) ENSP00000265715.3:n.-103T>C
NM_000441.1:c.-103T>C (SLC26A4) NP_000432.1:n.-103T>C
NR_028137.1:n.198-550A>G (SLC26A4-AS1)
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