Canonical Allele Identifier: CA4434034

Gene: SLC26A3

Linked Data

• ClinVar Variation Id: 358551
• ClinVar RCV Id: RCV000326115 ; RCV002058645
• dbSNP Id: rs188437289
• ExAC: 7:107427949 T / C
• gnomAD v2: 7-107427949-T-C
• gnomAD v3: 7-107787504-T-C
• gnomAD v4: 7-107787504-T-C
• MyVariant Identifiers: chr7:g.107427949T>C (hg19) ; chr7:g.107787504T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107787504T>C , CM000669.2:g.107787504T>C	GRCh38
NC_000007.13:g.107427949T>C , CM000669.1:g.107427949T>C	GRCh37
NC_000007.12:g.107215185T>C	NCBI36
NG_008046.1:g.20730A>G , LRG_683:g.20730A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340010.10:c.741A>G MANE Select	ENSP00000345873.5:p.Leu247=
ENST00000340010.9:c.741A>G	ENSP00000345873.5:p.Leu247=
ENST00000379083.7:c.*532A>G	ENSP00000368375.3:n.*532A>G
ENST00000468551.1:n.19A>G
NM_000111.2:c.741A>G , LRG_683t1:c.741A>G	NP_000102.1:p.Leu247=
XM_011515867.1:c.741A>G	XP_011514169.1:p.Leu247=
NM_000111.3:c.741A>G MANE Select	NP_000102.1:p.Leu247=