Canonical Allele Identifier: CA164233554
Gene: SLC26A4 HGNC NCBI

Linked Data

dbSNP Id: rs920339867
gnomAD v3: 7-107717310-G-A
gnomAD v4: 7-107717310-G-A
MyVariant Identifiers: chr7:g.107357755G>A (hg19) chr7:g.107717310G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107717310G>A , CM000669.2:g.107717310G>A GRCh38
NC_000007.13:g.107357755G>A , CM000669.1:g.107357755G>A GRCh37
NC_000007.12:g.107144991G>A NCBI36
NG_008489.1:g.61676G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.*1864G>A MANE Select ENSP00000494017.1:n.*1864G>A
ENST00000644846.1:c.2863G>A
ENST00000265715.7:c.*1864G>A ENSP00000265715.3:n.*1864G>A
NM_000441.1:c.*1864G>A NP_000432.1:n.*1864G>A
NM_000441.2:c.*1864G>A MANE Select NP_000432.1:n.*1864G>A
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