Canonical Allele Identifier: CA164228038
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 910782
ClinVar RCV Id: RCV001162817 RCV001162818 RCV001836967
dbSNP Id: rs372072732
gnomAD v2: 7-107350528-G-A
gnomAD v3: 7-107710083-G-A
gnomAD v4: 7-107710083-G-A
COSMIC: COSM241635
MyVariant Identifiers: chr7:g.107350528G>A (hg19) chr7:g.107710083G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710083G>A , CM000669.2:g.107710083G>A GRCh38
NC_000007.13:g.107350528G>A , CM000669.1:g.107350528G>A GRCh37
NC_000007.12:g.107137764G>A NCBI36
NG_008489.1:g.54449G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2119G>A MANE Select ENSP00000494017.1:p.Gly707Arg
ENST00000644846.1:c.775G>A
ENST00000265715.7:c.2119G>A ENSP00000265715.3:p.Gly707Arg
ENST00000492030.2:n.377-72G>A
NM_000441.1:c.2119G>A NP_000432.1:p.Gly707Arg
XM_005250425.1:c.2119G>A XP_005250482.1:p.Gly707Arg
XM_005250425.2:c.2119G>A XP_005250482.1:p.Gly707Arg
XM_017012318.1:c.2041G>A XP_016867807.1:p.Gly681Arg
NM_000441.2:c.2119G>A MANE Select NP_000432.1:p.Gly707Arg
Search 100 bp 5'
Search 100 bp 3'