Canonical Allele Identifier: CA10630391

Gene: KCNJ5

Linked Data

• ClinVar Variation Id: 303610
• ClinVar RCV Id: RCV000274121 ; RCV000368700 ; RCV001653486
• dbSNP Id: rs376640553
• gnomAD v2: 11-128761334-C-G
• gnomAD v3: 11-128891439-C-G
• gnomAD v4: 11-128891439-C-G
• MyVariant Identifiers: chr11:g.128761334C>G (hg19) ; chr11:g.128761334_128761342delinsGACAGAGAG (hg19) ; chr11:g.128891439C>G (hg38) ; chr11:g.128891439_128891447delinsGACAGAGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128891439C>G , CM000673.2:g.128891439C>G	GRCh38
NC_000011.9:g.128761334C>G , CM000673.1:g.128761334C>G	GRCh37
NC_000011.8:g.128266544C>G	NCBI36
NG_023406.2:g.5022C>G , LRG_333:g.5022C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.-293C>G MANE Select	ENSP00000433295.1:n.-293C>G
ENST00000529694.5:c.-293C>G	ENSP00000433295.1:n.-293C>G
NM_000890.3:c.-293C>G , LRG_333t1:c.-293C>G	NP_000881.3:n.-293C>G
NM_000890.4:c.-293C>G	NP_000881.3:n.-293C>G
NM_001354169.1:c.-382C>G	NP_001341098.1:n.-382C>G
NM_000890.5:c.-293C>G MANE Select	NP_000881.3:n.-293C>G
NM_001354169.2:c.-382C>G	NP_001341098.1:n.-382C>G