Canonical Allele Identifier: CA229441656
Gene: FXYD6-FXYD2 HGNC NCBI

Linked Data

dbSNP Id: rs1004508358
gnomAD v3: 11-117832082-C-T
gnomAD v4: 11-117832082-C-T
MyVariant Identifiers: chr11:g.117702797C>T (hg19) chr11:g.117832082C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117832082C>T , CM000673.2:g.117832082C>T GRCh38
NC_000011.9:g.117702797C>T , CM000673.1:g.117702797C>T GRCh37
NC_000011.8:g.117208007C>T NCBI36
NG_011543.1:g.1011G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000532984.1:c.272+7699G>A ENSP00000463024.1:n.272+7699G>A
ENST00000614497.5:c.259+7699G>A ENSP00000482442.1:n.259+7699G>A
NM_001204268.1:c.259+7699G>A NP_001191197.1:n.259+7699G>A
NM_001243598.2:c.272+7699G>A NP_001230527.1:n.272+7699G>A
NM_001204268.2:c.259+7699G>A NP_001191197.1:n.259+7699G>A
NM_001243598.3:c.272+7699G>A NP_001230527.1:n.272+7699G>A
NM_001204268.3:c.259+7699G>A NP_001191197.1:n.259+7699G>A
NM_001243598.4:c.272+7699G>A NP_001230527.1:n.272+7699G>A
Search 100 bp 5'
Search 100 bp 3'