Canonical Allele Identifier: CA368851371
Gene: SLC26A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1369676
ClinVar RCV Id: RCV001876835
dbSNP Id: rs2115832514
MyVariant Identifiers: chr7:g.107420138A>G (hg19) chr7:g.107779693A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107779693A>G , CM000669.2:g.107779693A>G GRCh38
NC_000007.13:g.107420138A>G , CM000669.1:g.107420138A>G GRCh37
NC_000007.12:g.107207374A>G NCBI36
NG_008046.1:g.28541T>C , LRG_683:g.28541T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000340010.10:c.1382T>C MANE Select ENSP00000345873.5:p.Leu461Ser
ENST00000340010.9:c.1382T>C ENSP00000345873.5:p.Leu461Ser
ENST00000379083.7:c.*1173T>C ENSP00000368375.3:n.*1173T>C
NM_000111.2:c.1382T>C , LRG_683t1:c.1382T>C NP_000102.1:p.Leu461Ser
XM_011515867.1:c.1382T>C XP_011514169.1:p.Leu461Ser
NM_000111.3:c.1382T>C MANE Select NP_000102.1:p.Leu461Ser
Search 100 bp 5'
Search 100 bp 3'