Canonical Allele Identifier: CA4432973
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1085191
ClinVar RCV Id: RCV001402513
dbSNP Id: rs757528850
ExAC: 7:107342355 C / A
gnomAD v2: 7-107342355-C-A
gnomAD v4: 7-107701910-C-A
MyVariant Identifiers: chr7:g.107342355C>A (hg19) chr7:g.107701910C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701910C>A , CM000669.2:g.107701910C>A GRCh38
NC_000007.13:g.107342355C>A , CM000669.1:g.107342355C>A GRCh37
NC_000007.12:g.107129591C>A NCBI36
NG_008489.1:g.46276C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1887C>A MANE Select ENSP00000494017.1:p.Ile629=
ENST00000644846.1:c.598C>A
ENST00000265715.7:c.1887C>A ENSP00000265715.3:p.Ile629=
ENST00000492030.2:n.174C>A
NM_000441.1:c.1887C>A NP_000432.1:p.Ile629=
XM_005250425.1:c.1887C>A XP_005250482.1:p.Ile629=
XM_005250425.2:c.1887C>A XP_005250482.1:p.Ile629=
XM_017012318.1:c.1809C>A XP_016867807.1:p.Ile603=
NM_000441.2:c.1887C>A MANE Select NP_000432.1:p.Ile629=
Search 100 bp 5'
Search 100 bp 3'