Canonical Allele Identifier: CA4432839
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1555316
ClinVar RCV Id: RCV002192869
dbSNP Id: rs745508336
ExAC: 7:107336473 G / A
gnomAD v2: 7-107336473-G-A
gnomAD v4: 7-107696028-G-A
MyVariant Identifiers: chr7:g.107336473G>A (hg19) chr7:g.107696028G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107696028G>A , CM000669.2:g.107696028G>A GRCh38
NC_000007.13:g.107336473G>A , CM000669.1:g.107336473G>A GRCh37
NC_000007.12:g.107123709G>A NCBI36
NG_008489.1:g.40394G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1533G>A MANE Select ENSP00000494017.1:p.Leu511=
ENST00000644846.1:c.244G>A
ENST00000265715.7:c.1533G>A ENSP00000265715.3:p.Leu511=
ENST00000477350.5:n.380G>A
ENST00000480841.5:n.382G>A
ENST00000497446.5:n.548G>A
NM_000441.1:c.1533G>A NP_000432.1:p.Leu511=
XM_005250425.1:c.1533G>A XP_005250482.1:p.Leu511=
XM_005250425.2:c.1533G>A XP_005250482.1:p.Leu511=
XM_017012318.1:c.1455G>A XP_016867807.1:p.Leu485=
NM_000441.2:c.1533G>A MANE Select NP_000432.1:p.Leu511=
Search 100 bp 5'
Search 100 bp 3'