Canonical Allele Identifier: CA2604032938

Gene: KCNJ5

Linked Data

• dbSNP Id: rs2135979735
• gnomAD v3: 11-128891778-C-T
• gnomAD v4: 11-128891778-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128891778C>T , CM000673.2:g.128891778C>T	GRCh38
NC_000011.9:g.128761673C>T , CM000673.1:g.128761673C>T	GRCh37
NC_000011.8:g.128266883C>T	NCBI36
NG_023406.2:g.5361C>T , LRG_333:g.5361C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.-11+57C>T MANE Select	ENSP00000433295.1:n.-11+57C>T
ENST00000338350.4:c.-100+57C>T	ENSP00000339960.4:n.-100+57C>T
ENST00000529694.5:c.-11+57C>T	ENSP00000433295.1:n.-11+57C>T
NM_000890.3:c.-11+57C>T , LRG_333t1:c.-11+57C>T	NP_000881.3:n.-11+57C>T
NM_000890.4:c.-11+57C>T	NP_000881.3:n.-11+57C>T
NM_001354169.1:c.-100+57C>T	NP_001341098.1:n.-100+57C>T
NM_000890.5:c.-11+57C>T MANE Select	NP_000881.3:n.-11+57C>T
NM_001354169.2:c.-100+57C>T	NP_001341098.1:n.-100+57C>T