Canonical Allele Identifier: CA1105629946
Gene: SLC26A4 HGNC NCBI

Linked Data

dbSNP Id: rs1792375913
gnomAD v3: 7-107717458-T-C
gnomAD v4: 7-107717458-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107717458T>C , CM000669.2:g.107717458T>C GRCh38
NC_000007.13:g.107357903T>C , CM000669.1:g.107357903T>C GRCh37
NC_000007.12:g.107145139T>C NCBI36
NG_008489.1:g.61824T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.*2012T>C MANE Select ENSP00000494017.1:n.*2012T>C
ENST00000265715.7:c.*2012T>C ENSP00000265715.3:n.*2012T>C
NM_000441.1:c.*2012T>C NP_000432.1:n.*2012T>C
NM_000441.2:c.*2012T>C MANE Select NP_000432.1:n.*2012T>C
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