Canonical Allele Identifier: CA302094

Gene: KCNJ5

Linked Data

• ClinVar Variation Id: 1992566
• ClinVar RCV Id: RCV002814400
• dbSNP Id: rs1555145048
• gnomAD v4: 11-128911907-G-A
• MyVariant Identifiers: chr11:g.128781802G>A (hg19) ; chr11:g.128911907G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128911907G>A , CM000673.2:g.128911907G>A	GRCh38
NC_000011.9:g.128781802G>A , CM000673.1:g.128781802G>A	GRCh37
NC_000011.8:g.128287012G>A	NCBI36
NG_023406.2:g.25490G>A , LRG_333:g.25490G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.634G>A MANE Select	ENSP00000433295.1:p.Asp212Asn
ENST00000338350.4:c.634G>A	ENSP00000339960.4:p.Asp212Asn
ENST00000529694.5:c.634G>A	ENSP00000433295.1:p.Asp212Asn
ENST00000533599.1:c.634G>A	ENSP00000434266.1:p.Asp212Asn
NM_000890.3:c.634G>A , LRG_333t1:c.634G>A	NP_000881.3:p.Asp212Asn
XM_011542809.1:c.634G>A	XP_011541111.1:p.Asp212Asn
XM_011542810.1:c.634G>A	XP_011541112.1:p.Asp212Asn
NM_000890.4:c.634G>A	NP_000881.3:p.Asp212Asn
NM_001354169.1:c.634G>A	NP_001341098.1:p.Asp212Asn
XM_011542809.2:c.634G>A	XP_011541111.1:p.Asp212Asn
XM_011542810.3:c.634G>A	XP_011541112.1:p.Asp212Asn
NM_000890.5:c.634G>A MANE Select	NP_000881.3:p.Asp212Asn
NM_001354169.2:c.634G>A	NP_001341098.1:p.Asp212Asn