Canonical Allele Identifier: CA16041103
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 370937
ClinVar RCV Id: RCV002523863 RCV003475958
dbSNP Id: rs1057516881
MyVariant Identifiers: chr7:g.107314795T>A (hg19) chr7:g.107674350T>A (hg38)
PubMed: PMID:23151025 PMID:23918157 PMID:25372295
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107674350T>A , CM000669.2:g.107674350T>A GRCh38
NC_000007.13:g.107314795T>A , CM000669.1:g.107314795T>A GRCh37
NC_000007.12:g.107102031T>A NCBI36
NG_008489.1:g.18716T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.600+2T>A MANE Select ENSP00000494017.1:n.600+2T>A
ENST00000265715.7:c.600+2T>A ENSP00000265715.3:n.600+2T>A
NM_000441.1:c.600+2T>A NP_000432.1:n.600+2T>A
XM_005250425.1:c.600+2T>A XP_005250482.1:n.600+2T>A
XM_006716025.2:c.600+2T>A XP_006716088.1:n.600+2T>A
XM_005250425.2:c.600+2T>A XP_005250482.1:n.600+2T>A
XM_006716025.3:c.600+2T>A XP_006716088.1:n.600+2T>A
XM_017012318.1:c.600+2T>A XP_016867807.1:n.600+2T>A
NM_000441.2:c.600+2T>A MANE Select NP_000432.1:n.600+2T>A
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