Canonical Allele Identifier: CA261445
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 4840
ClinVar RCV Id: RCV000005112 RCV000036513 RCV000169120 RCV000414330 RCV000824767 RCV001291247
dbSNP Id: rs111033313
ExAC: 7:107323898 A / G
gnomAD v2: 7-107323898-A-G
gnomAD v3: 7-107683453-A-G
gnomAD v4: 7-107683453-A-G
MyVariant Identifiers: chr7:g.107323898A>G (hg19) chr7:g.107683453A>G (hg38)
ERepo: CA261445/MONDO:0010134/005
PubMed: PMID:10874637 PMID:11502831 PMID:12676893 PMID:14508505 PMID:14679580 PMID:15574297 PMID:15679828 PMID:16711435 PMID:16924389 PMID:17443271 PMID:17718863 PMID:18641518 PMID:19426954 PMID:19786220 PMID:20301640 PMID:20668687 PMID:23151025 PMID:23718755 PMID:24105851
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107683453A>G , CM000669.2:g.107683453A>G GRCh38
NC_000007.13:g.107323898A>G , CM000669.1:g.107323898A>G GRCh37
NC_000007.12:g.107111134A>G NCBI36
NG_008489.1:g.27819A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.919-2A>G MANE Select ENSP00000494017.1:n.919-2A>G
ENST00000265715.7:c.919-2A>G ENSP00000265715.3:n.919-2A>G
NM_000441.1:c.919-2A>G NP_000432.1:n.919-2A>G
XM_005250425.1:c.919-2A>G XP_005250482.1:n.919-2A>G
XM_006716025.2:c.919-2A>G XP_006716088.1:n.919-2A>G
XM_005250425.2:c.919-2A>G XP_005250482.1:n.919-2A>G
XM_006716025.3:c.919-2A>G XP_006716088.1:n.919-2A>G
XM_017012318.1:c.919-2A>G XP_016867807.1:n.919-2A>G
NM_000441.2:c.919-2A>G MANE Select NP_000432.1:n.919-2A>G
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