Canonical Allele Identifier: CA274438
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 189160
ClinVar RCV Id: RCV000169586 RCV000515656
dbSNP Id: rs786204739
gnomAD v4: 7-107698083-T-G
MyVariant Identifiers: chr7:g.107338528T>G (hg19) chr7:g.107698083T>G (hg38)
PubMed: PMID:17718863 PMID:21961810 PMID:23151025 PMID:23185506 PMID:23296490 PMID:23918157 PMID:24105851 PMID:24599119
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107698083T>G , CM000669.2:g.107698083T>G GRCh38
NC_000007.13:g.107338528T>G , CM000669.1:g.107338528T>G GRCh37
NC_000007.12:g.107125764T>G NCBI36
NG_008489.1:g.42449T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1586T>G MANE Select ENSP00000494017.1:p.Ile529Ser
ENST00000644846.1:c.297T>G
ENST00000265715.7:c.1586T>G ENSP00000265715.3:p.Ile529Ser
ENST00000477350.5:n.433T>G
ENST00000480841.5:n.435T>G
NM_000441.1:c.1586T>G NP_000432.1:p.Ile529Ser
XM_005250425.1:c.1586T>G XP_005250482.1:p.Ile529Ser
XM_005250425.2:c.1586T>G XP_005250482.1:p.Ile529Ser
XM_017012318.1:c.1508T>G XP_016867807.1:p.Ile503Ser
NM_000441.2:c.1586T>G MANE Select NP_000432.1:p.Ile529Ser
Search 100 bp 5'
Search 100 bp 3'