Canonical Allele Identifier: CA4433855
Gene: SLC26A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 789518
ClinVar RCV Id: RCV000972158 RCV001161859 RCV003928529
dbSNP Id: rs117703371
ExAC: 7:107420206 G / A
gnomAD v2: 7-107420206-G-A
gnomAD v3: 7-107779761-G-A
gnomAD v4: 7-107779761-G-A
MyVariant Identifiers: chr7:g.107420206G>A (hg19) chr7:g.107779761G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107779761G>A , CM000669.2:g.107779761G>A GRCh38
NC_000007.13:g.107420206G>A , CM000669.1:g.107420206G>A GRCh37
NC_000007.12:g.107207442G>A NCBI36
NG_008046.1:g.28473C>T , LRG_683:g.28473C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340010.10:c.1314C>T MANE Select ENSP00000345873.5:p.Ser438=
ENST00000340010.9:c.1314C>T ENSP00000345873.5:p.Ser438=
ENST00000379083.7:c.*1105C>T ENSP00000368375.3:n.*1105C>T
NM_000111.2:c.1314C>T , LRG_683t1:c.1314C>T NP_000102.1:p.Ser438=
XM_011515867.1:c.1314C>T XP_011514169.1:p.Ser438=
NM_000111.3:c.1314C>T MANE Select NP_000102.1:p.Ser438=
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