Canonical Allele Identifier: CA368841594
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 446454
ClinVar RCV Id: RCV000515726 RCV000668348
dbSNP Id: rs1554360358
gnomAD v4: 7-107698076-A-C
MyVariant Identifiers: chr7:g.107338521A>C (hg19) chr7:g.107698076A>C (hg38)
PubMed: PMID:24105851
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107698076A>C , CM000669.2:g.107698076A>C GRCh38
NC_000007.13:g.107338521A>C , CM000669.1:g.107338521A>C GRCh37
NC_000007.12:g.107125757A>C NCBI36
NG_008489.1:g.42442A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1579A>C MANE Select ENSP00000494017.1:p.Thr527Pro
ENST00000644846.1:c.290A>C
ENST00000265715.7:c.1579A>C ENSP00000265715.3:p.Thr527Pro
ENST00000477350.5:n.426A>C
ENST00000480841.5:n.428A>C
NM_000441.1:c.1579A>C NP_000432.1:p.Thr527Pro
XM_005250425.1:c.1579A>C XP_005250482.1:p.Thr527Pro
XM_005250425.2:c.1579A>C XP_005250482.1:p.Thr527Pro
XM_017012318.1:c.1501A>C XP_016867807.1:p.Thr501Pro
NM_000441.2:c.1579A>C MANE Select NP_000432.1:p.Thr527Pro
Search 100 bp 5'
Search 100 bp 3'