Canonical Allele Identifier: CA2602903747

Gene: SLC26A3

Linked Data

• dbSNP Id: rs2115831031
• gnomAD v3: 7-107779275-A-G
• gnomAD v4: 7-107779275-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107779275A>G , CM000669.2:g.107779275A>G	GRCh38
NC_000007.13:g.107419720A>G , CM000669.1:g.107419720A>G	GRCh37
NC_000007.12:g.107206956A>G	NCBI36
NG_008046.1:g.28959T>C , LRG_683:g.28959T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340010.10:c.1407+393T>C MANE Select	ENSP00000345873.5:n.1407+393T>C
ENST00000340010.9:c.1407+393T>C	ENSP00000345873.5:n.1407+393T>C
ENST00000379083.7:c.*1198+393T>C	ENSP00000368375.3:n.*1198+393T>C
NM_000111.2:c.1407+393T>C , LRG_683t1:c.1407+393T>C	NP_000102.1:n.1407+393T>C
XM_011515867.1:c.1407+393T>C	XP_011514169.1:n.1407+393T>C
NM_000111.3:c.1407+393T>C MANE Select	NP_000102.1:n.1407+393T>C