Canonical Allele Identifier: CA577198996

Gene: SLC26A3

Linked Data

• dbSNP Id: rs1310290148
• gnomAD v2: 7-107408132-T-C
• gnomAD v4: 7-107767687-T-C
• MyVariant Identifiers: chr7:g.107408132T>C (hg19) ; chr7:g.107767687T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107767687T>C , CM000669.2:g.107767687T>C	GRCh38
NC_000007.13:g.107408132T>C , CM000669.1:g.107408132T>C	GRCh37
NC_000007.12:g.107195368T>C	NCBI36
NG_008046.1:g.40547A>G , LRG_683:g.40547A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000340010.10:c.2206-43A>G MANE Select	ENSP00000345873.5:n.2206-43A>G
ENST00000340010.9:c.2206-43A>G	ENSP00000345873.5:n.2206-43A>G
ENST00000379083.7:c.*1763-43A>G	ENSP00000368375.3:n.*1763-43A>G
NM_000111.2:c.2206-43A>G , LRG_683t1:c.2206-43A>G	NP_000102.1:n.2206-43A>G
XM_011515867.1:c.2206-43A>G	XP_011514169.1:n.2206-43A>G
NM_000111.3:c.2206-43A>G MANE Select	NP_000102.1:n.2206-43A>G