Canonical Allele Identifier: CA4434206

Gene: SLC26A3

Linked Data

• ClinVar Variation Id: 358558
• ClinVar RCV Id: RCV000975941 ; RCV000392859
• dbSNP Id: rs200385882
• ExAC: 7:107434180 A / T
• gnomAD v2: 7-107434180-A-T
• gnomAD v3: 7-107793735-A-T
• gnomAD v4: 7-107793735-A-T
• COSMIC: COSM5116349
• MyVariant Identifiers: chr7:g.107434180A>T (hg19) ; chr7:g.107793735A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107793735A>T , CM000669.2:g.107793735A>T	GRCh38
NC_000007.13:g.107434180A>T , CM000669.1:g.107434180A>T	GRCh37
NC_000007.12:g.107221416A>T	NCBI36
NG_008046.1:g.14499T>A , LRG_683:g.14499T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340010.10:c.271+7T>A MANE Select	ENSP00000345873.5:n.271+7T>A
ENST00000340010.9:c.271+7T>A	ENSP00000345873.5:n.271+7T>A
ENST00000379083.7:c.*62+7T>A	ENSP00000368375.3:n.*62+7T>A
ENST00000453332.1:c.271+7T>A	ENSP00000395955.1:n.271+7T>A
NM_000111.2:c.271+7T>A , LRG_683t1:c.271+7T>A	NP_000102.1:n.271+7T>A
XM_011515867.1:c.271+7T>A	XP_011514169.1:n.271+7T>A
NM_000111.3:c.271+7T>A MANE Select	NP_000102.1:n.271+7T>A