Canonical Allele Identifier: CA261416
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 43516
ClinVar RCV Id: RCV000036451 RCV000359760 RCV000515698 RCV000984218 RCV002477084
dbSNP Id: rs111033312
ExAC: 7:107338557 G / A
gnomAD v2: 7-107338557-G-A
gnomAD v3: 7-107698112-G-A
gnomAD v4: 7-107698112-G-A
MyVariant Identifiers: chr7:g.107338557G>A (hg19) chr7:g.107698112G>A (hg38)
PubMed: PMID:11919333 PMID:15355436 PMID:18285825 PMID:20597900 PMID:21704276 PMID:24105851
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107698112G>A , CM000669.2:g.107698112G>A GRCh38
NC_000007.13:g.107338557G>A , CM000669.1:g.107338557G>A GRCh37
NC_000007.12:g.107125793G>A NCBI36
NG_008489.1:g.42478G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1614+1G>A MANE Select ENSP00000494017.1:n.1614+1G>A
ENST00000644846.1:c.325+1G>A
ENST00000265715.7:c.1614+1G>A ENSP00000265715.3:n.1614+1G>A
ENST00000477350.5:n.461+1G>A
ENST00000480841.5:n.463+1G>A
NM_000441.1:c.1614+1G>A NP_000432.1:n.1614+1G>A
XM_005250425.1:c.1614+1G>A XP_005250482.1:n.1614+1G>A
XM_005250425.2:c.1614+1G>A XP_005250482.1:n.1614+1G>A
XM_017012318.1:c.1536+1G>A XP_016867807.1:n.1536+1G>A
NM_000441.2:c.1614+1G>A MANE Select NP_000432.1:n.1614+1G>A
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