Canonical Allele Identifier: CA368851395
Gene: SLC26A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2577220
ClinVar RCV Id: RCV003324297
MyVariant Identifiers: chr7:g.107420148T>C (hg19) chr7:g.107779703T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107779703T>C , CM000669.2:g.107779703T>C GRCh38
NC_000007.13:g.107420148T>C , CM000669.1:g.107420148T>C GRCh37
NC_000007.12:g.107207384T>C NCBI36
NG_008046.1:g.28531A>G , LRG_683:g.28531A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000340010.10:c.1372A>G MANE Select ENSP00000345873.5:p.Ile458Val
ENST00000340010.9:c.1372A>G ENSP00000345873.5:p.Ile458Val
ENST00000379083.7:c.*1163A>G ENSP00000368375.3:n.*1163A>G
NM_000111.2:c.1372A>G , LRG_683t1:c.1372A>G NP_000102.1:p.Ile458Val
XM_011515867.1:c.1372A>G XP_011514169.1:p.Ile458Val
NM_000111.3:c.1372A>G MANE Select NP_000102.1:p.Ile458Val
Search 100 bp 5'
Search 100 bp 3'