Canonical Allele Identifier: CA577198998
Gene: SLC26A3 HGNC NCBI

Linked Data

dbSNP Id: rs1227922311
gnomAD v2: 7-107408140-T-C
gnomAD v4: 7-107767695-T-C
MyVariant Identifiers: chr7:g.107408140T>C (hg19) chr7:g.107767695T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107767695T>C , CM000669.2:g.107767695T>C GRCh38
NC_000007.13:g.107408140T>C , CM000669.1:g.107408140T>C GRCh37
NC_000007.12:g.107195376T>C NCBI36
NG_008046.1:g.40539A>G , LRG_683:g.40539A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000340010.10:c.2206-51A>G MANE Select ENSP00000345873.5:n.2206-51A>G
ENST00000340010.9:c.2206-51A>G ENSP00000345873.5:n.2206-51A>G
ENST00000379083.7:c.*1763-51A>G ENSP00000368375.3:n.*1763-51A>G
NM_000111.2:c.2206-51A>G , LRG_683t1:c.2206-51A>G NP_000102.1:n.2206-51A>G
XM_011515867.1:c.2206-51A>G XP_011514169.1:n.2206-51A>G
NM_000111.3:c.2206-51A>G MANE Select NP_000102.1:n.2206-51A>G
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