Canonical Allele Identifier: CA261440
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 43568
ClinVar RCV Id: RCV000036508 RCV000396295 RCV001171537 RCV002477085 RCV003473272
dbSNP Id: rs111033454
ExAC: 7:107323726 G / A
gnomAD v2: 7-107323726-G-A
gnomAD v3: 7-107683281-G-A
gnomAD v4: 7-107683281-G-A
COSMIC: COSM1083871
MyVariant Identifiers: chr7:g.107323726G>A (hg19) chr7:g.107683281G>A (hg38)
ERepo: CA261440/MONDO:0010134/005
PubMed: PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107683281G>A , CM000669.2:g.107683281G>A GRCh38
NC_000007.13:g.107323726G>A , CM000669.1:g.107323726G>A GRCh37
NC_000007.12:g.107110962G>A NCBI36
NG_008489.1:g.27647G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.845G>A MANE Select ENSP00000494017.1:p.Cys282Tyr
ENST00000265715.7:c.845G>A ENSP00000265715.3:p.Cys282Tyr
NM_000441.1:c.845G>A NP_000432.1:p.Cys282Tyr
XM_005250425.1:c.845G>A XP_005250482.1:p.Cys282Tyr
XM_006716025.2:c.845G>A XP_006716088.1:p.Cys282Tyr
XM_005250425.2:c.845G>A XP_005250482.1:p.Cys282Tyr
XM_006716025.3:c.845G>A XP_006716088.1:p.Cys282Tyr
XM_017012318.1:c.845G>A XP_016867807.1:p.Cys282Tyr
NM_000441.2:c.845G>A MANE Select NP_000432.1:p.Cys282Tyr
Search 100 bp 5'
Search 100 bp 3'