Canonical Allele Identifier: CA4433998

Gene: SLC26A3

Linked Data

• ClinVar Variation Id: 358550
• ClinVar RCV Id: RCV000271508 ; RCV000958955 ; RCV003970051
• dbSNP Id: rs17154430
• ExAC: 7:107427360 A / G
• gnomAD v2: 7-107427360-A-G
• gnomAD v3: 7-107786915-A-G
• gnomAD v4: 7-107786915-A-G
• MyVariant Identifiers: chr7:g.107427360A>G (hg19) ; chr7:g.107786915A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107786915A>G , CM000669.2:g.107786915A>G	GRCh38
NC_000007.13:g.107427360A>G , CM000669.1:g.107427360A>G	GRCh37
NC_000007.12:g.107214596A>G	NCBI36
NG_008046.1:g.21319T>C , LRG_683:g.21319T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340010.10:c.889-6T>C MANE Select	ENSP00000345873.5:n.889-6T>C
ENST00000340010.9:c.889-6T>C	ENSP00000345873.5:n.889-6T>C
ENST00000379083.7:c.*680-6T>C	ENSP00000368375.3:n.*680-6T>C
ENST00000468551.1:n.167-6T>C
NM_000111.2:c.889-6T>C , LRG_683t1:c.889-6T>C	NP_000102.1:n.889-6T>C
XM_011515867.1:c.889-6T>C	XP_011514169.1:n.889-6T>C
NM_000111.3:c.889-6T>C MANE Select	NP_000102.1:n.889-6T>C