Canonical Allele Identifier: CA230626519
Gene: KCNJ5 HGNC NCBI

Linked Data

ClinVar Variation Id: 880038
ClinVar RCV Id: RCV001108013
dbSNP Id: rs572785542
gnomAD v2: 11-128761592-G-C
gnomAD v3: 11-128891697-G-C
gnomAD v4: 11-128891697-G-C
MyVariant Identifiers: chr11:g.128761592G>C (hg19) chr11:g.128891697G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128891697G>C , CM000673.2:g.128891697G>C GRCh38
NC_000011.9:g.128761592G>C , CM000673.1:g.128761592G>C GRCh37
NC_000011.8:g.128266802G>C NCBI36
NG_023406.2:g.5280G>C , LRG_333:g.5280G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000529694.6:c.-35G>C MANE Select ENSP00000433295.1:n.-35G>C
ENST00000338350.4:c.-124G>C ENSP00000339960.4:n.-124G>C
ENST00000529694.5:c.-35G>C ENSP00000433295.1:n.-35G>C
NM_000890.3:c.-35G>C , LRG_333t1:c.-35G>C NP_000881.3:n.-35G>C
NM_000890.4:c.-35G>C NP_000881.3:n.-35G>C
NM_001354169.1:c.-124G>C NP_001341098.1:n.-124G>C
NM_000890.5:c.-35G>C MANE Select NP_000881.3:n.-35G>C
NM_001354169.2:c.-124G>C NP_001341098.1:n.-124G>C
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