Canonical Allele Identifier: CA4432728
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 370080
ClinVar RCV Id: RCV000411469 RCV001216381 RCV001291348
dbSNP Id: rs142498437
ExAC: 7:107330657 A / G
gnomAD v2: 7-107330657-A-G
gnomAD v3: 7-107690212-A-G
gnomAD v4: 7-107690212-A-G
MyVariant Identifiers: chr7:g.107330657A>G (hg19) chr7:g.107690212A>G (hg38)
PubMed: PMID:21961810 PMID:23273637 PMID:24248179 PMID:25015771 PMID:25266519 PMID:25290043
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107690212A>G , CM000669.2:g.107690212A>G GRCh38
NC_000007.13:g.107330657A>G , CM000669.1:g.107330657A>G GRCh37
NC_000007.12:g.107117893A>G NCBI36
NG_008489.1:g.34578A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1238A>G MANE Select ENSP00000494017.1:p.Gln413Arg
ENST00000265715.7:c.1238A>G ENSP00000265715.3:p.Gln413Arg
NM_000441.1:c.1238A>G NP_000432.1:p.Gln413Arg
XM_005250425.1:c.1238A>G XP_005250482.1:p.Gln413Arg
XM_006716025.2:c.1238A>G XP_006716088.1:p.Gln413Arg
XM_005250425.2:c.1238A>G XP_005250482.1:p.Gln413Arg
XM_006716025.3:c.1238A>G XP_006716088.1:p.Gln413Arg
XM_017012318.1:c.1238A>G XP_016867807.1:p.Gln413Arg
NM_000441.2:c.1238A>G MANE Select NP_000432.1:p.Gln413Arg
Search 100 bp 5'
Search 100 bp 3'