Canonical Allele Identifier: CA164233667
Gene: SLC26A4 HGNC NCBI

Linked Data

dbSNP Id: rs887377091
gnomAD v3: 7-107717477-G-A
gnomAD v4: 7-107717477-G-A
MyVariant Identifiers: chr7:g.107357922G>A (hg19) chr7:g.107717477G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107717477G>A , CM000669.2:g.107717477G>A GRCh38
NC_000007.13:g.107357922G>A , CM000669.1:g.107357922G>A GRCh37
NC_000007.12:g.107145158G>A NCBI36
NG_008489.1:g.61843G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.*2031G>A MANE Select ENSP00000494017.1:n.*2031G>A
ENST00000265715.7:c.*2031G>A ENSP00000265715.3:n.*2031G>A
NM_000441.1:c.*2031G>A NP_000432.1:n.*2031G>A
NM_000441.2:c.*2031G>A MANE Select NP_000432.1:n.*2031G>A
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