Canonical Allele Identifier: CA10634126

Gene: KCNJ5

Linked Data

• ClinVar Variation Id: 303601
• ClinVar RCV Id: RCV000320142 ; RCV000372452 ; RCV001711779
• dbSNP Id: rs372328307
• gnomAD v2: 11-128761332-C-G
• gnomAD v3: 11-128891437-C-G
• gnomAD v4: 11-128891437-C-G
• MyVariant Identifiers: chr11:g.128761332C>G (hg19) ; chr11:g.128761332_128761342delinsGACACAGAGAG (hg19) ; chr11:g.128891437C>G (hg38) ; chr11:g.128891437_128891447delinsGACACAGAGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128891437C>G , CM000673.2:g.128891437C>G	GRCh38
NC_000011.9:g.128761332C>G , CM000673.1:g.128761332C>G	GRCh37
NC_000011.8:g.128266542C>G	NCBI36
NG_023406.2:g.5020C>G , LRG_333:g.5020C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.-295C>G MANE Select	ENSP00000433295.1:n.-295C>G
ENST00000529694.5:c.-295C>G	ENSP00000433295.1:n.-295C>G
NM_000890.3:c.-295C>G , LRG_333t1:c.-295C>G	NP_000881.3:n.-295C>G
NM_000890.4:c.-295C>G	NP_000881.3:n.-295C>G
NM_001354169.1:c.-384C>G	NP_001341098.1:n.-384C>G
NM_000890.5:c.-295C>G MANE Select	NP_000881.3:n.-295C>G
NM_001354169.2:c.-384C>G	NP_001341098.1:n.-384C>G