Canonical Allele Identifier: CA4432913
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 446457
ClinVar RCV Id: RCV000515708 RCV000669310 RCV000657917
dbSNP Id: rs192366176
ExAC: 7:107340625 G / A
gnomAD v2: 7-107340625-G-A
gnomAD v3: 7-107700180-G-A
gnomAD v4: 7-107700180-G-A
MyVariant Identifiers: chr7:g.107340625G>A (hg19) chr7:g.107700180G>A (hg38)
PubMed: PMID:24105851
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107700180G>A , CM000669.2:g.107700180G>A GRCh38
NC_000007.13:g.107340625G>A , CM000669.1:g.107340625G>A GRCh37
NC_000007.12:g.107127861G>A NCBI36
NG_008489.1:g.44546G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1707+5G>A MANE Select ENSP00000494017.1:n.1707+5G>A
ENST00000644846.1:c.418+5G>A
ENST00000265715.7:c.1707+5G>A ENSP00000265715.3:n.1707+5G>A
ENST00000480841.5:n.556+5G>A
ENST00000492030.2:n.90+5G>A
NM_000441.1:c.1707+5G>A NP_000432.1:n.1707+5G>A
XM_005250425.1:c.1707+5G>A XP_005250482.1:n.1707+5G>A
XM_005250425.2:c.1707+5G>A XP_005250482.1:n.1707+5G>A
XM_017012318.1:c.1629+5G>A XP_016867807.1:n.1629+5G>A
NM_000441.2:c.1707+5G>A MANE Select NP_000432.1:n.1707+5G>A
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