Canonical Allele Identifier: CA368841280
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 550792
ClinVar RCV Id: RCV000665637 RCV002530659
dbSNP Id: rs111033308
gnomAD v4: 7-107695984-G-C
MyVariant Identifiers: chr7:g.107336429G>C (hg19) chr7:g.107695984G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107695984G>C , CM000669.2:g.107695984G>C GRCh38
NC_000007.13:g.107336429G>C , CM000669.1:g.107336429G>C GRCh37
NC_000007.12:g.107123665G>C NCBI36
NG_008489.1:g.40350G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1489G>C MANE Select ENSP00000494017.1:p.Gly497Arg
ENST00000644846.1:c.200G>C
ENST00000265715.7:c.1489G>C ENSP00000265715.3:p.Gly497Arg
ENST00000477350.5:n.336G>C
ENST00000480841.5:n.338G>C
ENST00000497446.5:n.504G>C
NM_000441.1:c.1489G>C NP_000432.1:p.Gly497Arg
XM_005250425.1:c.1489G>C XP_005250482.1:p.Gly497Arg
XM_005250425.2:c.1489G>C XP_005250482.1:p.Gly497Arg
XM_017012318.1:c.1411G>C XP_016867807.1:p.Gly471Arg
NM_000441.2:c.1489G>C MANE Select NP_000432.1:p.Gly497Arg
Search 100 bp 5'
Search 100 bp 3'