Canonical Allele Identifier: CA273225
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 165257
ClinVar RCV Id: RCV000151902 RCV001580203 RCV001785478 RCV003137651
dbSNP Id: rs727503428
MyVariant Identifiers: chr7:g.107338496G>A (hg19) chr7:g.107698051G>A (hg38)
PubMed: PMID:20597900
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107698051G>A , CM000669.2:g.107698051G>A GRCh38
NC_000007.13:g.107338496G>A , CM000669.1:g.107338496G>A GRCh37
NC_000007.12:g.107125732G>A NCBI36
NG_008489.1:g.42417G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1554G>A MANE Select ENSP00000494017.1:p.Trp518Ter
ENST00000644846.1:c.265G>A
ENST00000265715.7:c.1554G>A ENSP00000265715.3:p.Trp518Ter
ENST00000477350.5:n.401G>A
ENST00000480841.5:n.403G>A
NM_000441.1:c.1554G>A NP_000432.1:p.Trp518Ter
XM_005250425.1:c.1554G>A XP_005250482.1:p.Trp518Ter
XM_005250425.2:c.1554G>A XP_005250482.1:p.Trp518Ter
XM_017012318.1:c.1476G>A XP_016867807.1:p.Trp492Ter
NM_000441.2:c.1554G>A MANE Select NP_000432.1:p.Trp518Ter
Search 100 bp 5'
Search 100 bp 3'