Canonical Allele Identifier: CA164233648
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 908188
ClinVar RCV Id: RCV001158538 RCV001158539
dbSNP Id: rs138245836
gnomAD v2: 7-107357873-C-A
gnomAD v3: 7-107717428-C-A
gnomAD v4: 7-107717428-C-A
MyVariant Identifiers: chr7:g.107357873C>A (hg19) chr7:g.107717428C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107717428C>A , CM000669.2:g.107717428C>A GRCh38
NC_000007.13:g.107357873C>A , CM000669.1:g.107357873C>A GRCh37
NC_000007.12:g.107145109C>A NCBI36
NG_008489.1:g.61794C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.*1982C>A MANE Select ENSP00000494017.1:n.*1982C>A
ENST00000265715.7:c.*1982C>A ENSP00000265715.3:n.*1982C>A
NM_000441.1:c.*1982C>A NP_000432.1:n.*1982C>A
NM_000441.2:c.*1982C>A MANE Select NP_000432.1:n.*1982C>A
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