Canonical Allele Identifier: CA4433089
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2766906
ClinVar RCV Id: RCV003580501
dbSNP Id: rs770831863
ExAC: 7:107350660 T / G
gnomAD v2: 7-107350660-T-G
gnomAD v4: 7-107710215-T-G
MyVariant Identifiers: chr7:g.107350660T>G (hg19) chr7:g.107710215T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710215T>G , CM000669.2:g.107710215T>G GRCh38
NC_000007.13:g.107350660T>G , CM000669.1:g.107350660T>G GRCh37
NC_000007.12:g.107137896T>G NCBI36
NG_008489.1:g.54581T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2235+16T>G MANE Select ENSP00000494017.1:n.2235+16T>G
ENST00000644846.1:c.891+16T>G
ENST00000265715.7:c.2235+16T>G ENSP00000265715.3:n.2235+16T>G
ENST00000492030.2:n.421+16T>G
NM_000441.1:c.2235+16T>G NP_000432.1:n.2235+16T>G
XM_005250425.1:c.2235+16T>G XP_005250482.1:n.2235+16T>G
XM_005250425.2:c.2235+16T>G XP_005250482.1:n.2235+16T>G
XM_017012318.1:c.2157+16T>G XP_016867807.1:n.2157+16T>G
NM_000441.2:c.2235+16T>G MANE Select NP_000432.1:n.2235+16T>G
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