Canonical Allele Identifier: CA253308
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 4826
ClinVar RCV Id: RCV000005096 RCV000005097 RCV000154350 RCV001057908
dbSNP Id: rs121908363
ExAC: 7:107350571 C / T
gnomAD v2: 7-107350571-C-T
gnomAD v3: 7-107710126-C-T
gnomAD v4: 7-107710126-C-T
MyVariant Identifiers: chr7:g.107350571C>T (hg19) chr7:g.107710126C>T (hg38)
PubMed: PMID:10190331 PMID:11748854 PMID:12676893 PMID:14508505 PMID:15355436 PMID:18813951 PMID:20826203 PMID:21704276 PMID:24105851 PMID:24599119 PMID:25266519
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710126C>T , CM000669.2:g.107710126C>T GRCh38
NC_000007.13:g.107350571C>T , CM000669.1:g.107350571C>T GRCh37
NC_000007.12:g.107137807C>T NCBI36
NG_008489.1:g.54492C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.2162C>T MANE Select ENSP00000494017.1:p.Thr721Met
ENST00000644846.1:c.818C>T
ENST00000265715.7:c.2162C>T ENSP00000265715.3:p.Thr721Met
ENST00000492030.2:n.377-29C>T
NM_000441.1:c.2162C>T NP_000432.1:p.Thr721Met
XM_005250425.1:c.2162C>T XP_005250482.1:p.Thr721Met
XM_005250425.2:c.2162C>T XP_005250482.1:p.Thr721Met
XM_017012318.1:c.2084C>T XP_016867807.1:p.Thr695Met
NM_000441.2:c.2162C>T MANE Select NP_000432.1:p.Thr721Met
Search 100 bp 5'
Search 100 bp 3'