Canonical Allele Identifier: CA1139660185
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 910952
ClinVar RCV Id: RCV001163141 RCV001165251
dbSNP Id: rs1037624606
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107717314C>G , CM000669.2:g.107717314C>G GRCh38
NC_000007.13:g.107357759C>G , CM000669.1:g.107357759C>G GRCh37
NC_000007.12:g.107144995C>G NCBI36
NG_008489.1:g.61680C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.*1868C>G MANE Select ENSP00000494017.1:n.*1868C>G
ENST00000644846.1:c.2867C>G
ENST00000265715.7:c.*1868C>G ENSP00000265715.3:n.*1868C>G
NM_000441.1:c.*1868C>G NP_000432.1:n.*1868C>G
NM_000441.2:c.*1868C>G MANE Select NP_000432.1:n.*1868C>G
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