Canonical Allele Identifier: CA457107548
Gene: SLC26A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2964752
ClinVar RCV Id: RCV003828374
dbSNP Id: rs1794183905
gnomAD v3: 7-107779674-A-G
gnomAD v4: 7-107779674-A-G
MyVariant Identifiers: chr7:g.107420119A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107779674A>G , CM000669.2:g.107779674A>G GRCh38
NC_000007.13:g.107420119A>G , CM000669.1:g.107420119A>G GRCh37
NC_000007.12:g.107207355A>G NCBI36
NG_008046.1:g.28560T>C , LRG_683:g.28560T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000340010.10:c.1401T>C MANE Select ENSP00000345873.5:p.Tyr467=
ENST00000340010.9:c.1401T>C ENSP00000345873.5:p.Tyr467=
ENST00000379083.7:c.*1192T>C ENSP00000368375.3:n.*1192T>C
NM_000111.2:c.1401T>C , LRG_683t1:c.1401T>C NP_000102.1:p.Tyr467=
XM_011515867.1:c.1401T>C XP_011514169.1:p.Tyr467=
NM_000111.3:c.1401T>C MANE Select NP_000102.1:p.Tyr467=
Search 100 bp 5'
Search 100 bp 3'