Canonical Allele Identifier: CA132730
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 43559
ClinVar RCV Id: RCV000036496 RCV000673701 RCV001785465
dbSNP Id: rs111033365
gnomAD v2: 7-107314738-A-T
gnomAD v4: 7-107674293-A-T
MyVariant Identifiers: chr7:g.107314738A>T (hg19) chr7:g.107674293A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107674293A>T , CM000669.2:g.107674293A>T GRCh38
NC_000007.13:g.107314738A>T , CM000669.1:g.107314738A>T GRCh37
NC_000007.12:g.107101974A>T NCBI36
NG_008489.1:g.18659A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.545A>T MANE Select ENSP00000494017.1:p.Asp182Val
ENST00000265715.7:c.545A>T ENSP00000265715.3:p.Asp182Val
NM_000441.1:c.545A>T NP_000432.1:p.Asp182Val
XM_005250425.1:c.545A>T XP_005250482.1:p.Asp182Val
XM_006716025.2:c.545A>T XP_006716088.1:p.Asp182Val
XM_005250425.2:c.545A>T XP_005250482.1:p.Asp182Val
XM_006716025.3:c.545A>T XP_006716088.1:p.Asp182Val
XM_017012318.1:c.545A>T XP_016867807.1:p.Asp182Val
NM_000441.2:c.545A>T MANE Select NP_000432.1:p.Asp182Val
Search 100 bp 5'
Search 100 bp 3'