Canonical Allele Identifier: CA16041111
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 371471
ClinVar RCV Id: RCV000410038
dbSNP Id: rs1057517298
MyVariant Identifiers: chr7:g.107335065G>T (hg19) chr7:g.107694620G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107694620G>T , CM000669.2:g.107694620G>T GRCh38
NC_000007.13:g.107335065G>T , CM000669.1:g.107335065G>T GRCh37
NC_000007.12:g.107122301G>T NCBI36
NG_008489.1:g.38986G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1342-1G>T MANE Select ENSP00000494017.1:n.1342-1G>T
ENST00000644846.1:c.53-1G>T
ENST00000265715.7:c.1342-1G>T ENSP00000265715.3:n.1342-1G>T
ENST00000460748.1:n.445-1G>T
ENST00000477350.5:n.189-1G>T
ENST00000480841.5:n.191-1G>T
ENST00000497446.5:n.357-1G>T
NM_000441.1:c.1342-1G>T NP_000432.1:n.1342-1G>T
XM_005250425.1:c.1342-1G>T XP_005250482.1:n.1342-1G>T
XM_005250425.2:c.1342-1G>T XP_005250482.1:n.1342-1G>T
XM_017012318.1:c.1264-1G>T XP_016867807.1:n.1264-1G>T
NM_000441.2:c.1342-1G>T MANE Select NP_000432.1:n.1342-1G>T
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