Canonical Allele Identifier: CA341732
Gene: KCNJ11 HGNC NCBI

Linked Data

ClinVar Variation Id: 21205
ClinVar RCV Id: RCV000020362 RCV002226653
dbSNP Id: rs193929357
MyVariant Identifiers: chr11:g.17408642A>T (hg19) chr11:g.17387095A>T (hg38)
PubMed: PMID:20301620
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387095A>T , CM000673.2:g.17387095A>T GRCh38
NC_000011.9:g.17408642A>T , CM000673.1:g.17408642A>T GRCh37
NC_000011.8:g.17365218A>T NCBI36
NG_012446.1:g.6565T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682350.1:c.736T>A ENSP00000508090.1:p.Phe246Ile
ENST00000682764.1:c.736T>A ENSP00000506780.1:p.Phe246Ile
ENST00000339994.5:c.997T>A MANE Select ENSP00000345708.4:p.Phe333Ile
ENST00000339994.4:c.997T>A ENSP00000345708.4:p.Phe333Ile
ENST00000528731.1:c.736T>A ENSP00000434755.1:p.Phe246Ile
NM_000525.3:c.997T>A NP_000516.3:p.Phe333Ile
NM_001166290.1:c.736T>A NP_001159762.1:p.Phe246Ile
XM_006718226.2:c.736T>A XP_006718289.1:p.Phe246Ile
XR_930867.1:n.1155T>A
XM_006718226.3:c.736T>A XP_006718289.1:p.Phe246Ile
XM_017017680.1:c.736T>A XP_016873169.1:p.Phe246Ile
NM_001166290.2:c.736T>A NP_001159762.1:p.Phe246Ile
NM_001377296.1:c.736T>A NP_001364225.1:p.Phe246Ile
NM_001377297.1:c.736T>A NP_001364226.1:p.Phe246Ile
NM_000525.4:c.997T>A MANE Select NP_000516.3:p.Phe333Ile
Search 100 bp 5'
Search 100 bp 3'