Canonical Allele Identifier: CA457107576
Gene: SLC26A3 HGNC NCBI

Linked Data

gnomAD v4: 7-107779728-C-T
COSMIC: COSM3631800
MyVariant Identifiers: chr7:g.107420173C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107779728C>T , CM000669.2:g.107779728C>T GRCh38
NC_000007.13:g.107420173C>T , CM000669.1:g.107420173C>T GRCh37
NC_000007.12:g.107207409C>T NCBI36
NG_008046.1:g.28506G>A , LRG_683:g.28506G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340010.10:c.1347G>A MANE Select ENSP00000345873.5:p.Lys449=
ENST00000340010.9:c.1347G>A ENSP00000345873.5:p.Lys449=
ENST00000379083.7:c.*1138G>A ENSP00000368375.3:n.*1138G>A
NM_000111.2:c.1347G>A , LRG_683t1:c.1347G>A NP_000102.1:p.Lys449=
XM_011515867.1:c.1347G>A XP_011514169.1:p.Lys449=
NM_000111.3:c.1347G>A MANE Select NP_000102.1:p.Lys449=
Search 100 bp 5'
Search 100 bp 3'