Canonical Allele Identifier: CA383249481

Gene: KCNJ5

Linked Data

• gnomAD v4: 11-128911919-T-A
• MyVariant Identifiers: chr11:g.128781814T>A (hg19) ; chr11:g.128911919T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128911919T>A , CM000673.2:g.128911919T>A	GRCh38
NC_000011.9:g.128781814T>A , CM000673.1:g.128781814T>A	GRCh37
NC_000011.8:g.128287024T>A	NCBI36
NG_023406.2:g.25502T>A , LRG_333:g.25502T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000529694.6:c.646T>A MANE Select	ENSP00000433295.1:p.Cys216Ser
ENST00000338350.4:c.646T>A	ENSP00000339960.4:p.Cys216Ser
ENST00000529694.5:c.646T>A	ENSP00000433295.1:p.Cys216Ser
ENST00000533599.1:c.646T>A	ENSP00000434266.1:p.Cys216Ser
NM_000890.3:c.646T>A , LRG_333t1:c.646T>A	NP_000881.3:p.Cys216Ser
XM_011542809.1:c.646T>A	XP_011541111.1:p.Cys216Ser
XM_011542810.1:c.646T>A	XP_011541112.1:p.Cys216Ser
NM_000890.4:c.646T>A	NP_000881.3:p.Cys216Ser
NM_001354169.1:c.646T>A	NP_001341098.1:p.Cys216Ser
XM_011542809.2:c.646T>A	XP_011541111.1:p.Cys216Ser
XM_011542810.3:c.646T>A	XP_011541112.1:p.Cys216Ser
NM_000890.5:c.646T>A MANE Select	NP_000881.3:p.Cys216Ser
NM_001354169.2:c.646T>A	NP_001341098.1:p.Cys216Ser