Canonical Allele Identifier: CA10638503
Gene: KCNJ5 HGNC NCBI

Linked Data

ClinVar Variation Id: 303626
ClinVar RCV Id: RCV000296557 RCV000401132
dbSNP Id: rs557063967
gnomAD v2: 11-128761564-G-C
gnomAD v3: 11-128891669-G-C
gnomAD v4: 11-128891669-G-C
MyVariant Identifiers: chr11:g.128761564G>C (hg19) chr11:g.128891669G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128891669G>C , CM000673.2:g.128891669G>C GRCh38
NC_000011.9:g.128761564G>C , CM000673.1:g.128761564G>C GRCh37
NC_000011.8:g.128266774G>C NCBI36
NG_023406.2:g.5252G>C , LRG_333:g.5252G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000529694.6:c.-63G>C MANE Select ENSP00000433295.1:n.-63G>C
ENST00000338350.4:c.-152G>C ENSP00000339960.4:n.-152G>C
ENST00000529694.5:c.-63G>C ENSP00000433295.1:n.-63G>C
NM_000890.3:c.-63G>C , LRG_333t1:c.-63G>C NP_000881.3:n.-63G>C
NM_000890.4:c.-63G>C NP_000881.3:n.-63G>C
NM_001354169.1:c.-152G>C NP_001341098.1:n.-152G>C
NM_000890.5:c.-63G>C MANE Select NP_000881.3:n.-63G>C
NM_001354169.2:c.-152G>C NP_001341098.1:n.-152G>C
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