Canonical Allele Identifier: CA577038560
Gene: SLC26A3 HGNC NCBI

Linked Data

dbSNP Id: rs1226465168
gnomAD v2: 7-107419871-C-T
gnomAD v3: 7-107779426-C-T
gnomAD v4: 7-107779426-C-T
MyVariant Identifiers: chr7:g.107419871C>T (hg19) chr7:g.107779426C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107779426C>T , CM000669.2:g.107779426C>T GRCh38
NC_000007.13:g.107419871C>T , CM000669.1:g.107419871C>T GRCh37
NC_000007.12:g.107207107C>T NCBI36
NG_008046.1:g.28808G>A , LRG_683:g.28808G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340010.10:c.1407+242G>A MANE Select ENSP00000345873.5:n.1407+242G>A
ENST00000340010.9:c.1407+242G>A ENSP00000345873.5:n.1407+242G>A
ENST00000379083.7:c.*1198+242G>A ENSP00000368375.3:n.*1198+242G>A
NM_000111.2:c.1407+242G>A , LRG_683t1:c.1407+242G>A NP_000102.1:n.1407+242G>A
XM_011515867.1:c.1407+242G>A XP_011514169.1:n.1407+242G>A
NM_000111.3:c.1407+242G>A MANE Select NP_000102.1:n.1407+242G>A
Search 100 bp 5'
Search 100 bp 3'