Canonical Allele Identifier: CA4433749

Gene: SLC26A3

Linked Data

• ClinVar Variation Id: 358541
• ClinVar RCV Id: RCV000391208 ; RCV001511136
• dbSNP Id: rs367754347
• ExAC: 7:107416887 C / T
• gnomAD v2: 7-107416887-C-T
• gnomAD v3: 7-107776442-C-T
• gnomAD v4: 7-107776442-C-T
• MyVariant Identifiers: chr7:g.107416887C>T (hg19) ; chr7:g.107776442C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107776442C>T , CM000669.2:g.107776442C>T	GRCh38
NC_000007.13:g.107416887C>T , CM000669.1:g.107416887C>T	GRCh37
NC_000007.12:g.107204123C>T	NCBI36
NG_008046.1:g.31792G>A , LRG_683:g.31792G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340010.10:c.1677+10G>A MANE Select	ENSP00000345873.5:n.1677+10G>A
ENST00000340010.9:c.1677+10G>A	ENSP00000345873.5:n.1677+10G>A
ENST00000379083.7:c.*1468+10G>A	ENSP00000368375.3:n.*1468+10G>A
ENST00000469651.1:n.219G>A
NM_000111.2:c.1677+10G>A , LRG_683t1:c.1677+10G>A	NP_000102.1:n.1677+10G>A
XM_011515867.1:c.1677+10G>A	XP_011514169.1:n.1677+10G>A
NM_000111.3:c.1677+10G>A MANE Select	NP_000102.1:n.1677+10G>A