Canonical Allele Identifier: CA144108

Gene: SLC26A3

Linked Data

• ClinVar Variation Id: 56005
• ClinVar RCV Id: RCV000049414 ; RCV000998892 ; RCV003964905
• dbSNP Id: rs386833486
• ExAC: 7:107430135 T / C
• gnomAD v2: 7-107430135-T-C
• gnomAD v4: 7-107789690-T-C
• MyVariant Identifiers: chr7:g.107430135T>C (hg19) ; chr7:g.107789690T>C (hg38)
• PubMed: PMID:9718329

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107789690T>C , CM000669.2:g.107789690T>C	GRCh38
NC_000007.13:g.107430135T>C , CM000669.1:g.107430135T>C	GRCh37
NC_000007.12:g.107217371T>C	NCBI36
NG_008046.1:g.18544A>G , LRG_683:g.18544A>G

Transcript Alleles

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