Canonical Allele Identifier: CA4433558
Gene: SLC26A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1461129
ClinVar RCV Id: RCV001953936
dbSNP Id: rs148586598
ExAC: 7:107408223 A / G
gnomAD v2: 7-107408223-A-G
gnomAD v3: 7-107767778-A-G
gnomAD v4: 7-107767778-A-G
MyVariant Identifiers: chr7:g.107408223A>G (hg19) chr7:g.107767778A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107767778A>G , CM000669.2:g.107767778A>G GRCh38
NC_000007.13:g.107408223A>G , CM000669.1:g.107408223A>G GRCh37
NC_000007.12:g.107195459A>G NCBI36
NG_008046.1:g.40456T>C , LRG_683:g.40456T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000340010.10:c.2193T>C MANE Select ENSP00000345873.5:p.Phe731=
ENST00000340010.9:c.2193T>C ENSP00000345873.5:p.Phe731=
ENST00000379083.7:c.*1750T>C ENSP00000368375.3:n.*1750T>C
NM_000111.2:c.2193T>C , LRG_683t1:c.2193T>C NP_000102.1:p.Phe731=
XM_011515867.1:c.2193T>C XP_011514169.1:p.Phe731=
NM_000111.3:c.2193T>C MANE Select NP_000102.1:p.Phe731=
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