Canonical Allele Identifier: CA4433686

Gene: SLC26A3

Linked Data

• ClinVar Variation Id: 358539
• ClinVar RCV Id: RCV000303361 ; RCV002058644 ; RCV002524518
• dbSNP Id: rs201220816
• ExAC: 7:107414586 A / C
• gnomAD v2: 7-107414586-A-C
• gnomAD v3: 7-107774141-A-C
• gnomAD v4: 7-107774141-A-C
• MyVariant Identifiers: chr7:g.107414586A>C (hg19) ; chr7:g.107774141A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107774141A>C , CM000669.2:g.107774141A>C	GRCh38
NC_000007.13:g.107414586A>C , CM000669.1:g.107414586A>C	GRCh37
NC_000007.12:g.107201822A>C	NCBI36
NG_008046.1:g.34093T>G , LRG_683:g.34093T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340010.10:c.1786T>G MANE Select	ENSP00000345873.5:p.Cys596Gly
ENST00000340010.9:c.1786T>G	ENSP00000345873.5:p.Cys596Gly
ENST00000379083.7:c.*1564+636T>G	ENSP00000368375.3:n.*1564+636T>G
NM_000111.2:c.1786T>G , LRG_683t1:c.1786T>G	NP_000102.1:p.Cys596Gly
XM_011515867.1:c.1786T>G	XP_011514169.1:p.Cys596Gly
NM_000111.3:c.1786T>G MANE Select	NP_000102.1:p.Cys596Gly