Canonical Allele Identifier: CA10630411
Gene: KCNJ5 HGNC NCBI

Linked Data

ClinVar Variation Id: 303621
ClinVar RCV Id: RCV000328098 RCV000359449 RCV002502203
dbSNP Id: rs886048006
gnomAD v2: 11-128761342-G-C
gnomAD v3: 11-128891447-G-C
gnomAD v4: 11-128891447-G-C
MyVariant Identifiers: chr11:g.128761342G>C (hg19) chr11:g.128891447G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128891447G>C , CM000673.2:g.128891447G>C GRCh38
NC_000011.9:g.128761342G>C , CM000673.1:g.128761342G>C GRCh37
NC_000011.8:g.128266552G>C NCBI36
NG_023406.2:g.5030G>C , LRG_333:g.5030G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000529694.6:c.-285G>C MANE Select ENSP00000433295.1:n.-285G>C
ENST00000529694.5:c.-285G>C ENSP00000433295.1:n.-285G>C
NM_000890.3:c.-285G>C , LRG_333t1:c.-285G>C NP_000881.3:n.-285G>C
NM_000890.4:c.-285G>C NP_000881.3:n.-285G>C
NM_001354169.1:c.-374G>C NP_001341098.1:n.-374G>C
NM_000890.5:c.-285G>C MANE Select NP_000881.3:n.-285G>C
NM_001354169.2:c.-374G>C NP_001341098.1:n.-374G>C
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