Canonical Allele Identifier: CA457098535
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1117046
ClinVar RCV Id: RCV001445613
dbSNP Id: rs1438508849
gnomAD v4: 7-107698096-C-T
MyVariant Identifiers: chr7:g.107338541C>T (hg19) chr7:g.107698096C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107698096C>T , CM000669.2:g.107698096C>T GRCh38
NC_000007.13:g.107338541C>T , CM000669.1:g.107338541C>T GRCh37
NC_000007.12:g.107125777C>T NCBI36
NG_008489.1:g.42462C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1599C>T MANE Select ENSP00000494017.1:p.Thr533=
ENST00000644846.1:c.310C>T
ENST00000265715.7:c.1599C>T ENSP00000265715.3:p.Thr533=
ENST00000477350.5:n.446C>T
ENST00000480841.5:n.448C>T
NM_000441.1:c.1599C>T NP_000432.1:p.Thr533=
XM_005250425.1:c.1599C>T XP_005250482.1:p.Thr533=
XM_005250425.2:c.1599C>T XP_005250482.1:p.Thr533=
XM_017012318.1:c.1521C>T XP_016867807.1:p.Thr507=
NM_000441.2:c.1599C>T MANE Select NP_000432.1:p.Thr533=
Search 100 bp 5'
Search 100 bp 3'