Canonical Allele Identifier: CA132697
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 43536
ClinVar RCV Id: RCV000036471 RCV001852761 RCV001826556
dbSNP Id: rs111033443
gnomAD v2: 7-107350499-A-C
gnomAD v4: 7-107710054-A-C
MyVariant Identifiers: chr7:g.107350499A>C (hg19) chr7:g.107710054A>C (hg38)
PubMed: PMID:19509082
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710054A>C , CM000669.2:g.107710054A>C GRCh38
NC_000007.13:g.107350499A>C , CM000669.1:g.107350499A>C GRCh37
NC_000007.12:g.107137735A>C NCBI36
NG_008489.1:g.54420A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2090A>C MANE Select ENSP00000494017.1:p.Asp697Ala
ENST00000644846.1:c.746A>C
ENST00000265715.7:c.2090A>C ENSP00000265715.3:p.Asp697Ala
ENST00000492030.2:n.377-101A>C
NM_000441.1:c.2090A>C NP_000432.1:p.Asp697Ala
XM_005250425.1:c.2090A>C XP_005250482.1:p.Asp697Ala
XM_005250425.2:c.2090A>C XP_005250482.1:p.Asp697Ala
XM_017012318.1:c.2012A>C XP_016867807.1:p.Asp671Ala
NM_000441.2:c.2090A>C MANE Select NP_000432.1:p.Asp697Ala
Search 100 bp 5'
Search 100 bp 3'