Canonical Allele Identifier: CA144099

Gene: SLC26A3

Linked Data

• ClinVar Variation Id: 56000
• ClinVar RCV Id: RCV000049409 ; RCV003556127
• dbSNP Id: rs386833481
• ExAC: 7:107431671 G / A
• gnomAD v2: 7-107431671-G-A
• gnomAD v4: 7-107791226-G-A
• COSMIC: COSM1699170
• MyVariant Identifiers: chr7:g.107431671G>A (hg19) ; chr7:g.107791226G>A (hg38)
• PubMed: PMID:21394828

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107791226G>A , CM000669.2:g.107791226G>A	GRCh38
NC_000007.13:g.107431671G>A , CM000669.1:g.107431671G>A	GRCh37
NC_000007.12:g.107218907G>A	NCBI36
NG_008046.1:g.17008C>T , LRG_683:g.17008C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340010.10:c.392C>T MANE Select	ENSP00000345873.5:p.Pro131Leu
ENST00000340010.9:c.392C>T	ENSP00000345873.5:p.Pro131Leu
ENST00000379083.7:c.*183C>T	ENSP00000368375.3:n.*183C>T
NM_000111.2:c.392C>T , LRG_683t1:c.392C>T	NP_000102.1:p.Pro131Leu
XM_011515867.1:c.392C>T	XP_011514169.1:p.Pro131Leu
NM_000111.3:c.392C>T MANE Select	NP_000102.1:p.Pro131Leu