Canonical Allele Identifier: CA144111
Gene: SLC26A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 56007
ClinVar RCV Id: RCV000049416
dbSNP Id: rs386833488
gnomAD v4: 7-107789643-A-G
MyVariant Identifiers: chr7:g.107430088A>G (hg19) chr7:g.107789643A>G (hg38)
PubMed: PMID:11524734
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107789643A>G , CM000669.2:g.107789643A>G GRCh38
NC_000007.13:g.107430088A>G , CM000669.1:g.107430088A>G GRCh37
NC_000007.12:g.107217324A>G NCBI36
NG_008046.1:g.18591T>C , LRG_683:g.18591T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340010.10:c.616T>C MANE Select ENSP00000345873.5:p.Ser206Pro
ENST00000340010.9:c.616T>C ENSP00000345873.5:p.Ser206Pro
ENST00000379083.7:c.*407T>C ENSP00000368375.3:n.*407T>C
NM_000111.2:c.616T>C , LRG_683t1:c.616T>C NP_000102.1:p.Ser206Pro
XM_011515867.1:c.616T>C XP_011514169.1:p.Ser206Pro
NM_000111.3:c.616T>C MANE Select NP_000102.1:p.Ser206Pro
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