Canonical Allele Identifier: CA831178905
Gene: SLC26A3 HGNC NCBI

Linked Data

dbSNP Id: rs1374267997
gnomAD v4: 7-107779599-G-T
MyVariant Identifiers: chr7:g.107420044G>T (hg19) chr7:g.107779599G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107779599G>T , CM000669.2:g.107779599G>T GRCh38
NC_000007.13:g.107420044G>T , CM000669.1:g.107420044G>T GRCh37
NC_000007.12:g.107207280G>T NCBI36
NG_008046.1:g.28635C>A , LRG_683:g.28635C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000340010.10:c.1407+69C>A MANE Select ENSP00000345873.5:n.1407+69C>A
ENST00000340010.9:c.1407+69C>A ENSP00000345873.5:n.1407+69C>A
ENST00000379083.7:c.*1198+69C>A ENSP00000368375.3:n.*1198+69C>A
NM_000111.2:c.1407+69C>A , LRG_683t1:c.1407+69C>A NP_000102.1:n.1407+69C>A
XM_011515867.1:c.1407+69C>A XP_011514169.1:n.1407+69C>A
NM_000111.3:c.1407+69C>A MANE Select NP_000102.1:n.1407+69C>A
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