Canonical Allele Identifier: CA16041114
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 370114
ClinVar RCV Id: RCV000410361 RCV001386694 RCV003475938
dbSNP Id: rs1057516243
gnomAD v4: 7-107698092-G-T
MyVariant Identifiers: chr7:g.107338537G>T (hg19) chr7:g.107698092G>T (hg38)
PubMed: PMID:23918157 PMID:24599119 PMID:25372295
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107698092G>T , CM000669.2:g.107698092G>T GRCh38
NC_000007.13:g.107338537G>T , CM000669.1:g.107338537G>T GRCh37
NC_000007.12:g.107125773G>T NCBI36
NG_008489.1:g.42458G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1595G>T MANE Select ENSP00000494017.1:p.Ser532Ile
ENST00000644846.1:c.306G>T
ENST00000265715.7:c.1595G>T ENSP00000265715.3:p.Ser532Ile
ENST00000477350.5:n.442G>T
ENST00000480841.5:n.444G>T
NM_000441.1:c.1595G>T NP_000432.1:p.Ser532Ile
XM_005250425.1:c.1595G>T XP_005250482.1:p.Ser532Ile
XM_005250425.2:c.1595G>T XP_005250482.1:p.Ser532Ile
XM_017012318.1:c.1517G>T XP_016867807.1:p.Ser506Ile
NM_000441.2:c.1595G>T MANE Select NP_000432.1:p.Ser532Ile
Search 100 bp 5'
Search 100 bp 3'