Canonical Allele Identifier: CA274422
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 189148
ClinVar RCV Id: RCV000169571 RCV000488403 RCV003474916
dbSNP Id: rs786204730
ExAC: 7:107312637 C / CT
gnomAD v2: 7-107312637-C-CT
gnomAD v4: 7-107672192-C-CT
MyVariant Identifiers: chr7:g.107312643dupT (hg19) chr7:g.107312637_107312638insT (hg19) chr7:g.107672198dupT (hg38) chr7:g.107672192_107672193insT (hg38)
ERepo: CA274422/MONDO:0010134/005
PubMed: PMID:15679828 PMID:24051746
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107672198dup , CM000669.2:g.107672198dup GRCh38
NC_000007.13:g.107312643dup , CM000669.1:g.107312643dup GRCh37
NC_000007.12:g.107099879dup NCBI36
NG_008489.1:g.16564dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.365dup MANE Select ENSP00000494017.1:p.Ile124TyrfsTer?
ENST00000265715.7:c.365dup ENSP00000265715.3:p.Ile124TyrfsTer?
ENST00000440056.1:c.365dup ENSP00000394760.1:p.Ile124TyrfsTer?
NM_000441.1:c.365dup NP_000432.1:p.Ile124TyrfsTer?
XM_005250425.1:c.365dup XP_005250482.1:p.Ile124TyrfsTer?
XM_006716025.2:c.365dup XP_006716088.1:p.Ile124TyrfsTer?
XM_005250425.2:c.365dup XP_005250482.1:p.Ile124TyrfsTer?
XM_006716025.3:c.365dup XP_006716088.1:p.Ile124TyrfsTer?
XM_017012318.1:c.365dup XP_016867807.1:p.Ile124TyrfsTer?
NM_000441.2:c.365dup MANE Select NP_000432.1:p.Ile124TyrfsTer?
Search 100 bp 5'
Search 100 bp 3'