Canonical Allele Identifier: CA4432495
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1380619
ClinVar RCV Id: RCV001892340
dbSNP Id: rs779009430
ExAC: 7:107314681 T / C
gnomAD v2: 7-107314681-T-C
gnomAD v3: 7-107674236-T-C
gnomAD v4: 7-107674236-T-C
MyVariant Identifiers: chr7:g.107314681T>C (hg19) chr7:g.107674236T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107674236T>C , CM000669.2:g.107674236T>C GRCh38
NC_000007.13:g.107314681T>C , CM000669.1:g.107314681T>C GRCh37
NC_000007.12:g.107101917T>C NCBI36
NG_008489.1:g.18602T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.488T>C MANE Select ENSP00000494017.1:p.Val163Ala
ENST00000265715.7:c.488T>C ENSP00000265715.3:p.Val163Ala
NM_000441.1:c.488T>C NP_000432.1:p.Val163Ala
XM_005250425.1:c.488T>C XP_005250482.1:p.Val163Ala
XM_006716025.2:c.488T>C XP_006716088.1:p.Val163Ala
XM_005250425.2:c.488T>C XP_005250482.1:p.Val163Ala
XM_006716025.3:c.488T>C XP_006716088.1:p.Val163Ala
XM_017012318.1:c.488T>C XP_016867807.1:p.Val163Ala
NM_000441.2:c.488T>C MANE Select NP_000432.1:p.Val163Ala
Search 100 bp 5'
Search 100 bp 3'