Canonical Allele Identifier: CA673262739

Gene: KCNJ5

Linked Data

• dbSNP Id: rs1345571059
• gnomAD v3: 11-128891792-C-T
• gnomAD v4: 11-128891792-C-T
• MyVariant Identifiers: chr11:g.128761687C>T (hg19) ; chr11:g.128891792C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128891792C>T , CM000673.2:g.128891792C>T	GRCh38
NC_000011.9:g.128761687C>T , CM000673.1:g.128761687C>T	GRCh37
NC_000011.8:g.128266897C>T	NCBI36
NG_023406.2:g.5375C>T , LRG_333:g.5375C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.-11+71C>T MANE Select	ENSP00000433295.1:n.-11+71C>T
ENST00000338350.4:c.-100+71C>T	ENSP00000339960.4:n.-100+71C>T
ENST00000529694.5:c.-11+71C>T	ENSP00000433295.1:n.-11+71C>T
NM_000890.3:c.-11+71C>T , LRG_333t1:c.-11+71C>T	NP_000881.3:n.-11+71C>T
NM_000890.4:c.-11+71C>T	NP_000881.3:n.-11+71C>T
NM_001354169.1:c.-100+71C>T	NP_001341098.1:n.-100+71C>T
NM_000890.5:c.-11+71C>T MANE Select	NP_000881.3:n.-11+71C>T
NM_001354169.2:c.-100+71C>T	NP_001341098.1:n.-100+71C>T