Canonical Allele Identifier: CA383235213

Gene: KCNJ5

Linked Data

• gnomAD v4: 11-128916415-C-T
• MyVariant Identifiers: chr11:g.128786310C>T (hg19) ; chr11:g.128916415C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128916415C>T , CM000673.2:g.128916415C>T	GRCh38
NC_000011.9:g.128786310C>T , CM000673.1:g.128786310C>T	GRCh37
NC_000011.8:g.128291520C>T	NCBI36
NG_023406.2:g.29998C>T , LRG_333:g.29998C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.944C>T MANE Select	ENSP00000433295.1:p.Thr315Ile
ENST00000338350.4:c.944C>T	ENSP00000339960.4:p.Thr315Ile
ENST00000529694.5:c.944C>T	ENSP00000433295.1:p.Thr315Ile
ENST00000533599.1:c.944C>T	ENSP00000434266.1:p.Thr315Ile
NM_000890.3:c.944C>T , LRG_333t1:c.944C>T	NP_000881.3:p.Thr315Ile
XM_011542809.1:c.944C>T	XP_011541111.1:p.Thr315Ile
XM_011542810.1:c.944C>T	XP_011541112.1:p.Thr315Ile
NM_000890.4:c.944C>T	NP_000881.3:p.Thr315Ile
NM_001354169.1:c.944C>T	NP_001341098.1:p.Thr315Ile
XM_011542809.2:c.944C>T	XP_011541111.1:p.Thr315Ile
XM_011542810.3:c.944C>T	XP_011541112.1:p.Thr315Ile
NM_000890.5:c.944C>T MANE Select	NP_000881.3:p.Thr315Ile
NM_001354169.2:c.944C>T	NP_001341098.1:p.Thr315Ile