Canonical Allele Identifier: CA651806387

Gene: SLC26A3

Linked Data

• dbSNP Id: rs80191685
• gnomAD v3: 7-107779596-C-T
• gnomAD v4: 7-107779596-C-T
• COSMIC: COSN8515207

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107779596C>T , CM000669.2:g.107779596C>T	GRCh38
NC_000007.13:g.107420041C>T , CM000669.1:g.107420041C>T	GRCh37
NC_000007.12:g.107207277C>T	NCBI36
NG_008046.1:g.28638G>A , LRG_683:g.28638G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000340010.10:c.1407+72G>A MANE Select	ENSP00000345873.5:n.1407+72G>A
ENST00000340010.9:c.1407+72G>A	ENSP00000345873.5:n.1407+72G>A
ENST00000379083.7:c.*1198+72G>A	ENSP00000368375.3:n.*1198+72G>A
NM_000111.2:c.1407+72G>A , LRG_683t1:c.1407+72G>A	NP_000102.1:n.1407+72G>A
XM_011515867.1:c.1407+72G>A	XP_011514169.1:n.1407+72G>A
NM_000111.3:c.1407+72G>A MANE Select	NP_000102.1:n.1407+72G>A