Canonical Allele Identifier: CA10625062
Gene: SLC26A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 358532
ClinVar RCV Id: RCV000375058
dbSNP Id: rs886061897
MyVariant Identifiers: chr7:g.107406104A>G (hg19) chr7:g.107765659A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107765659A>G , CM000669.2:g.107765659A>G GRCh38
NC_000007.13:g.107406104A>G , CM000669.1:g.107406104A>G GRCh37
NC_000007.12:g.107193340A>G NCBI36
NG_008046.1:g.42575T>C , LRG_683:g.42575T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340010.10:c.*196T>C MANE Select ENSP00000345873.5:n.*196T>C
ENST00000340010.9:c.*196T>C ENSP00000345873.5:n.*196T>C
ENST00000379083.7:c.*2048T>C ENSP00000368375.3:n.*2048T>C
NM_000111.2:c.*196T>C , LRG_683t1:c.*196T>C NP_000102.1:n.*196T>C
XM_011515867.1:c.*196T>C XP_011514169.1:n.*196T>C
NM_000111.3:c.*196T>C MANE Select NP_000102.1:n.*196T>C
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