Canonical Allele Identifier: CA119833

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 8679
• ClinVar RCV Id: RCV000009216 ; RCV000020352 ; RCV002247280
• dbSNP Id: rs80356618
• MyVariant Identifiers: chr11:g.17409142C>A (hg19) ; chr11:g.17387595C>A (hg38)
• PubMed: PMID:16416420 ; PMID:16670688 ; PMID:20301620

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387595C>A , CM000673.2:g.17387595C>A	GRCh38
NC_000011.9:g.17409142C>A , CM000673.1:g.17409142C>A	GRCh37
NC_000011.8:g.17365718C>A	NCBI36
NG_012446.1:g.6065G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.236G>T	ENSP00000508090.1:p.Cys79Phe
ENST00000682764.1:c.236G>T	ENSP00000506780.1:p.Cys79Phe
ENST00000339994.5:c.497G>T MANE Select	ENSP00000345708.4:p.Cys166Phe
ENST00000339994.4:c.497G>T	ENSP00000345708.4:p.Cys166Phe
ENST00000526912.1:c.236G>T	ENSP00000432729.1:p.Cys79Phe
ENST00000528731.1:c.236G>T	ENSP00000434755.1:p.Cys79Phe
NM_000525.3:c.497G>T	NP_000516.3:p.Cys166Phe
NM_001166290.1:c.236G>T	NP_001159762.1:p.Cys79Phe
XM_006718226.2:c.236G>T	XP_006718289.1:p.Cys79Phe
XR_930867.1:n.655G>T
XM_006718226.3:c.236G>T	XP_006718289.1:p.Cys79Phe
XM_017017680.1:c.236G>T	XP_016873169.1:p.Cys79Phe
NM_001166290.2:c.236G>T	NP_001159762.1:p.Cys79Phe
NM_001377296.1:c.236G>T	NP_001364225.1:p.Cys79Phe
NM_001377297.1:c.236G>T	NP_001364226.1:p.Cys79Phe
NM_000525.4:c.497G>T MANE Select	NP_000516.3:p.Cys166Phe