Canonical Allele Identifier: CA4434080

Gene: SLC26A3

Linked Data

• ClinVar Variation Id: 358555
• ClinVar RCV Id: RCV000377355 ; RCV002058646
• dbSNP Id: rs200735098
• ExAC: 7:107430142 A / G
• gnomAD v2: 7-107430142-A-G
• gnomAD v3: 7-107789697-A-G
• gnomAD v4: 7-107789697-A-G
• MyVariant Identifiers: chr7:g.107430142A>G (hg19) ; chr7:g.107789697A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107789697A>G , CM000669.2:g.107789697A>G	GRCh38
NC_000007.13:g.107430142A>G , CM000669.1:g.107430142A>G	GRCh37
NC_000007.12:g.107217378A>G	NCBI36
NG_008046.1:g.18537T>C , LRG_683:g.18537T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340010.10:c.571-9T>C MANE Select	ENSP00000345873.5:n.571-9T>C
ENST00000340010.9:c.571-9T>C	ENSP00000345873.5:n.571-9T>C
ENST00000379083.7:c.*362-9T>C	ENSP00000368375.3:n.*362-9T>C
NM_000111.2:c.571-9T>C , LRG_683t1:c.571-9T>C	NP_000102.1:n.571-9T>C
XM_011515867.1:c.571-9T>C	XP_011514169.1:n.571-9T>C
NM_000111.3:c.571-9T>C MANE Select	NP_000102.1:n.571-9T>C