Canonical Allele Identifier: CA4433848
Gene: SLC26A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 810173
ClinVar RCV Id: RCV000998891
dbSNP Id: rs780815307
ExAC: 7:107420135 C / T
gnomAD v2: 7-107420135-C-T
gnomAD v3: 7-107779690-C-T
gnomAD v4: 7-107779690-C-T
MyVariant Identifiers: chr7:g.107420135C>T (hg19) chr7:g.107779690C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107779690C>T , CM000669.2:g.107779690C>T GRCh38
NC_000007.13:g.107420135C>T , CM000669.1:g.107420135C>T GRCh37
NC_000007.12:g.107207371C>T NCBI36
NG_008046.1:g.28544G>A , LRG_683:g.28544G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000340010.10:c.1385G>A MANE Select ENSP00000345873.5:p.Trp462Ter
ENST00000340010.9:c.1385G>A ENSP00000345873.5:p.Trp462Ter
ENST00000379083.7:c.*1176G>A ENSP00000368375.3:n.*1176G>A
NM_000111.2:c.1385G>A , LRG_683t1:c.1385G>A NP_000102.1:p.Trp462Ter
XM_011515867.1:c.1385G>A XP_011514169.1:p.Trp462Ter
NM_000111.3:c.1385G>A MANE Select NP_000102.1:p.Trp462Ter
Search 100 bp 5'
Search 100 bp 3'