Canonical Allele Identifier: CA4433530
Gene: SLC26A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 358535
ClinVar RCV Id: RCV000382696 RCV000956520
dbSNP Id: rs35342296
ExAC: 7:107408037 T / C
gnomAD v2: 7-107408037-T-C
gnomAD v3: 7-107767592-T-C
gnomAD v4: 7-107767592-T-C
MyVariant Identifiers: chr7:g.107408037T>C (hg19) chr7:g.107767592T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107767592T>C , CM000669.2:g.107767592T>C GRCh38
NC_000007.13:g.107408037T>C , CM000669.1:g.107408037T>C GRCh37
NC_000007.12:g.107195273T>C NCBI36
NG_008046.1:g.40642A>G , LRG_683:g.40642A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340010.10:c.2258A>G MANE Select ENSP00000345873.5:p.Asn753Ser
ENST00000340010.9:c.2258A>G ENSP00000345873.5:p.Asn753Ser
ENST00000379083.7:c.*1815A>G ENSP00000368375.3:n.*1815A>G
NM_000111.2:c.2258A>G , LRG_683t1:c.2258A>G NP_000102.1:p.Asn753Ser
XM_011515867.1:c.2258A>G XP_011514169.1:p.Asn753Ser
NM_000111.3:c.2258A>G MANE Select NP_000102.1:p.Asn753Ser
Search 100 bp 5'
Search 100 bp 3'