Canonical Allele Identifier: CA4433532

Gene: SLC26A3

Linked Data

• ClinVar Variation Id: 2195245
• ClinVar RCV Id: RCV002628525
• dbSNP Id: rs776888978
• ExAC: 7:107408041 G / A
• gnomAD v2: 7-107408041-G-A
• gnomAD v3: 7-107767596-G-A
• gnomAD v4: 7-107767596-G-A
• COSMIC: COSM1083901
• MyVariant Identifiers: chr7:g.107408041G>A (hg19) ; chr7:g.107767596G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107767596G>A , CM000669.2:g.107767596G>A	GRCh38
NC_000007.13:g.107408041G>A , CM000669.1:g.107408041G>A	GRCh37
NC_000007.12:g.107195277G>A	NCBI36
NG_008046.1:g.40638C>T , LRG_683:g.40638C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340010.10:c.2254C>T MANE Select	ENSP00000345873.5:p.Arg752Cys
ENST00000340010.9:c.2254C>T	ENSP00000345873.5:p.Arg752Cys
ENST00000379083.7:c.*1811C>T	ENSP00000368375.3:n.*1811C>T
NM_000111.2:c.2254C>T , LRG_683t1:c.2254C>T	NP_000102.1:p.Arg752Cys
XM_011515867.1:c.2254C>T	XP_011514169.1:p.Arg752Cys
NM_000111.3:c.2254C>T MANE Select	NP_000102.1:p.Arg752Cys