Canonical Allele Identifier: CA341728

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 21201
• ClinVar RCV Id: RCV000020358 ; RCV002247374
• dbSNP Id: rs193929353
• MyVariant Identifiers: chr11:g.17408753T>G (hg19) ; chr11:g.17387206T>G (hg38)
• PubMed: PMID:20301620

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387206T>G , CM000673.2:g.17387206T>G	GRCh38
NC_000011.9:g.17408753T>G , CM000673.1:g.17408753T>G	GRCh37
NC_000011.8:g.17365329T>G	NCBI36
NG_012446.1:g.6454A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682350.1:c.625A>C	ENSP00000508090.1:p.Ile209Leu
ENST00000682764.1:c.625A>C	ENSP00000506780.1:p.Ile209Leu
ENST00000339994.5:c.886A>C MANE Select	ENSP00000345708.4:p.Ile296Leu
ENST00000339994.4:c.886A>C	ENSP00000345708.4:p.Ile296Leu
ENST00000528731.1:c.625A>C	ENSP00000434755.1:p.Ile209Leu
NM_000525.3:c.886A>C	NP_000516.3:p.Ile296Leu
NM_001166290.1:c.625A>C	NP_001159762.1:p.Ile209Leu
XM_006718226.2:c.625A>C	XP_006718289.1:p.Ile209Leu
XR_930867.1:n.1044A>C
XM_006718226.3:c.625A>C	XP_006718289.1:p.Ile209Leu
XM_017017680.1:c.625A>C	XP_016873169.1:p.Ile209Leu
NM_001166290.2:c.625A>C	NP_001159762.1:p.Ile209Leu
NM_001377296.1:c.625A>C	NP_001364225.1:p.Ile209Leu
NM_001377297.1:c.625A>C	NP_001364226.1:p.Ile209Leu
NM_000525.4:c.886A>C MANE Select	NP_000516.3:p.Ile296Leu