Canonical Allele Identifier: CA383236284

Gene: KCNJ5

Linked Data

• ClinVar Variation Id: 959751
• ClinVar RCV Id: RCV001233155 ; RCV004033191
• dbSNP Id: rs1265998559
• gnomAD v4: 11-128916681-G-C
• MyVariant Identifiers: chr11:g.128786576G>C (hg19) ; chr11:g.128916681G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128916681G>C , CM000673.2:g.128916681G>C	GRCh38
NC_000011.9:g.128786576G>C , CM000673.1:g.128786576G>C	GRCh37
NC_000011.8:g.128291786G>C	NCBI36
NG_023406.2:g.30264G>C , LRG_333:g.30264G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.1210G>C MANE Select	ENSP00000433295.1:p.Asp404His
ENST00000338350.4:c.1210G>C	ENSP00000339960.4:p.Asp404His
ENST00000529694.5:c.1210G>C	ENSP00000433295.1:p.Asp404His
ENST00000533599.1:c.1210G>C	ENSP00000434266.1:p.Asp404His
NM_000890.3:c.1210G>C , LRG_333t1:c.1210G>C	NP_000881.3:p.Asp404His
XM_011542809.1:c.1210G>C	XP_011541111.1:p.Asp404His
XM_011542810.1:c.1210G>C	XP_011541112.1:p.Asp404His
NM_000890.4:c.1210G>C	NP_000881.3:p.Asp404His
NM_001354169.1:c.1210G>C	NP_001341098.1:p.Asp404His
XM_011542809.2:c.1210G>C	XP_011541111.1:p.Asp404His
XM_011542810.3:c.1210G>C	XP_011541112.1:p.Asp404His
NM_000890.5:c.1210G>C MANE Select	NP_000881.3:p.Asp404His
NM_001354169.2:c.1210G>C	NP_001341098.1:p.Asp404His