Canonical Allele Identifier: CA229441654
Gene: FXYD6-FXYD2 HGNC NCBI

Linked Data

dbSNP Id: rs544146345
gnomAD v2: 11-117702771-G-C
gnomAD v3: 11-117832056-G-C
gnomAD v4: 11-117832056-G-C
MyVariant Identifiers: chr11:g.117702771G>C (hg19) chr11:g.117832056G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117832056G>C , CM000673.2:g.117832056G>C GRCh38
NC_000011.9:g.117702771G>C , CM000673.1:g.117702771G>C GRCh37
NC_000011.8:g.117207981G>C NCBI36
NG_011543.1:g.1037C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000532984.1:c.272+7725C>G ENSP00000463024.1:n.272+7725C>G
ENST00000614497.5:c.259+7725C>G ENSP00000482442.1:n.259+7725C>G
NM_001204268.1:c.259+7725C>G NP_001191197.1:n.259+7725C>G
NM_001243598.2:c.272+7725C>G NP_001230527.1:n.272+7725C>G
NM_001204268.2:c.259+7725C>G NP_001191197.1:n.259+7725C>G
NM_001243598.3:c.272+7725C>G NP_001230527.1:n.272+7725C>G
NM_001204268.3:c.259+7725C>G NP_001191197.1:n.259+7725C>G
NM_001243598.4:c.272+7725C>G NP_001230527.1:n.272+7725C>G
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