Canonical Allele Identifier: CA368851530
Gene: SLC26A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1275759
ClinVar RCV Id: RCV001682636
dbSNP Id: rs386833449
MyVariant Identifiers: chr7:g.107420209C>A (hg19) chr7:g.107779764C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107779764C>A , CM000669.2:g.107779764C>A GRCh38
NC_000007.13:g.107420209C>A , CM000669.1:g.107420209C>A GRCh37
NC_000007.12:g.107207445C>A NCBI36
NG_008046.1:g.28470G>T , LRG_683:g.28470G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340010.10:c.1312-1G>T MANE Select ENSP00000345873.5:n.1312-1G>T
ENST00000340010.9:c.1312-1G>T ENSP00000345873.5:n.1312-1G>T
ENST00000379083.7:c.*1103-1G>T ENSP00000368375.3:n.*1103-1G>T
NM_000111.2:c.1312-1G>T , LRG_683t1:c.1312-1G>T NP_000102.1:n.1312-1G>T
XM_011515867.1:c.1312-1G>T XP_011514169.1:n.1312-1G>T
NM_000111.3:c.1312-1G>T MANE Select NP_000102.1:n.1312-1G>T
Search 100 bp 5'
Search 100 bp 3'