Canonical Allele Identifier: CA132675
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 43521
ClinVar RCV Id: RCV000036456 RCV000497745 RCV000673671 RCV002496562 RCV003473268 RCV004534763
dbSNP Id: rs397516421
ExAC: 7:107341546 G / A
gnomAD v2: 7-107341546-G-A
gnomAD v3: 7-107701101-G-A
gnomAD v4: 7-107701101-G-A
MyVariant Identifiers: chr7:g.107341546G>A (hg19) chr7:g.107701101G>A (hg38)
ERepo: CA132675/MONDO:0010134/005
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701101G>A , CM000669.2:g.107701101G>A GRCh38
NC_000007.13:g.107341546G>A , CM000669.1:g.107341546G>A GRCh37
NC_000007.12:g.107128782G>A NCBI36
NG_008489.1:g.45467G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1708G>A MANE Select ENSP00000494017.1:p.Val570Ile
ENST00000644846.1:c.419G>A
ENST00000265715.7:c.1708G>A ENSP00000265715.3:p.Val570Ile
ENST00000480841.5:n.557G>A
ENST00000492030.2:n.91-726G>A
NM_000441.1:c.1708G>A NP_000432.1:p.Val570Ile
XM_005250425.1:c.1708G>A XP_005250482.1:p.Val570Ile
XM_005250425.2:c.1708G>A XP_005250482.1:p.Val570Ile
XM_017012318.1:c.1630G>A XP_016867807.1:p.Val544Ile
NM_000441.2:c.1708G>A MANE Select NP_000432.1:p.Val570Ile
Search 100 bp 5'
Search 100 bp 3'