Canonical Allele Identifier: CA10634187

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 303725
• ClinVar RCV Id: RCV000273280 ; RCV000328163 ; RCV000382740 ; RCV001570606 ; RCV002274012
• dbSNP Id: rs5209
• gnomAD v2: 11-17408178-C-T
• gnomAD v3: 11-17386631-C-T
• gnomAD v4: 11-17386631-C-T
• MyVariant Identifiers: chr11:g.17408178C>T (hg19) ; chr11:g.17386631C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17386631C>T , CM000673.2:g.17386631C>T	GRCh38
NC_000011.9:g.17408178C>T , CM000673.1:g.17408178C>T	GRCh37
NC_000011.8:g.17364754C>T	NCBI36
NG_012446.1:g.7029G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.*288G>A	ENSP00000508090.1:n.*288G>A
ENST00000682764.1:c.*50+238G>A	ENSP00000506780.1:n.*50+238G>A
ENST00000339994.5:c.*288G>A MANE Select	ENSP00000345708.4:n.*288G>A
ENST00000339994.4:c.*288G>A	ENSP00000345708.4:n.*288G>A
ENST00000526747.1:n.120G>A
ENST00000528731.1:c.*288G>A	ENSP00000434755.1:n.*288G>A
NM_000525.3:c.*288G>A	NP_000516.3:n.*288G>A
NM_001166290.1:c.*288G>A	NP_001159762.1:n.*288G>A
XM_006718226.2:c.*288G>A	XP_006718289.1:n.*288G>A
XR_930867.1:n.1381+238G>A
XM_006718226.3:c.*288G>A	XP_006718289.1:n.*288G>A
XM_017017680.1:c.*288G>A	XP_016873169.1:n.*288G>A
NM_001166290.2:c.*288G>A	NP_001159762.1:n.*288G>A
NM_001377296.1:c.*288G>A	NP_001364225.1:n.*288G>A
NM_001377297.1:c.*288G>A	NP_001364226.1:n.*288G>A
NM_000525.4:c.*288G>A MANE Select	NP_000516.3:n.*288G>A