Canonical Allele Identifier: CA4433997

Gene: SLC26A3

Linked Data

• ClinVar Variation Id: 358549
• ClinVar RCV Id: RCV000366052 ; RCV002524519
• dbSNP Id: rs367700437
• ExAC: 7:107427352 G / A
• gnomAD v2: 7-107427352-G-A
• gnomAD v3: 7-107786907-G-A
• gnomAD v4: 7-107786907-G-A
• MyVariant Identifiers: chr7:g.107427352G>A (hg19) ; chr7:g.107786907G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107786907G>A , CM000669.2:g.107786907G>A	GRCh38
NC_000007.13:g.107427352G>A , CM000669.1:g.107427352G>A	GRCh37
NC_000007.12:g.107214588G>A	NCBI36
NG_008046.1:g.21327C>T , LRG_683:g.21327C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340010.10:c.891C>T MANE Select	ENSP00000345873.5:p.Thr297=
ENST00000340010.9:c.891C>T	ENSP00000345873.5:p.Thr297=
ENST00000379083.7:c.*682C>T	ENSP00000368375.3:n.*682C>T
ENST00000468551.1:n.169C>T
NM_000111.2:c.891C>T , LRG_683t1:c.891C>T	NP_000102.1:p.Thr297=
XM_011515867.1:c.891C>T	XP_011514169.1:p.Thr297=
NM_000111.3:c.891C>T MANE Select	NP_000102.1:p.Thr297=