Canonical Allele Identifier: CA1105628930
Gene: SLC26A4 HGNC NCBI

Linked Data

dbSNP Id: rs1792341177
gnomAD v3: 7-107716206-T-C
gnomAD v4: 7-107716206-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107716206T>C , CM000669.2:g.107716206T>C GRCh38
NC_000007.13:g.107356651T>C , CM000669.1:g.107356651T>C GRCh37
NC_000007.12:g.107143887T>C NCBI36
NG_008489.1:g.60572T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.*760T>C MANE Select ENSP00000494017.1:n.*760T>C
ENST00000644846.1:c.1759T>C
ENST00000265715.7:c.*760T>C ENSP00000265715.3:n.*760T>C
NM_000441.1:c.*760T>C NP_000432.1:n.*760T>C
XM_005250425.2:c.*760T>C XP_005250482.1:n.*760T>C
XM_017012318.1:c.*760T>C XP_016867807.1:n.*760T>C
NM_000441.2:c.*760T>C MANE Select NP_000432.1:n.*760T>C
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