Canonical Allele Identifier: CA261404
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 4818
ClinVar RCV Id: RCV000005087 RCV000036432 RCV000435157 RCV000779525 RCV000824771 RCV001004638
dbSNP Id: rs28939086
ExAC: 7:107330665 A / C
gnomAD v2: 7-107330665-A-C
gnomAD v3: 7-107690220-A-C
gnomAD v4: 7-107690220-A-C
MyVariant Identifiers: chr7:g.107330665A>C (hg19) chr7:g.107690220A>C (hg38)
PubMed: PMID:9618166 PMID:9618167 PMID:10861298 PMID:11317356 PMID:12354788 PMID:15531480 PMID:18283249 PMID:18310264 PMID:20301640 PMID:23336812 PMID:24224479
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107690220A>C , CM000669.2:g.107690220A>C GRCh38
NC_000007.13:g.107330665A>C , CM000669.1:g.107330665A>C GRCh37
NC_000007.12:g.107117901A>C NCBI36
NG_008489.1:g.34586A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1246A>C MANE Select ENSP00000494017.1:p.Thr416Pro
ENST00000265715.7:c.1246A>C ENSP00000265715.3:p.Thr416Pro
NM_000441.1:c.1246A>C NP_000432.1:p.Thr416Pro
XM_005250425.1:c.1246A>C XP_005250482.1:p.Thr416Pro
XM_006716025.2:c.1246A>C XP_006716088.1:p.Thr416Pro
XM_005250425.2:c.1246A>C XP_005250482.1:p.Thr416Pro
XM_006716025.3:c.1246A>C XP_006716088.1:p.Thr416Pro
XM_017012318.1:c.1246A>C XP_016867807.1:p.Thr416Pro
NM_000441.2:c.1246A>C MANE Select NP_000432.1:p.Thr416Pro
Search 100 bp 5'
Search 100 bp 3'