Canonical Allele Identifier: CA379769506

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 586106
• ClinVar RCV Id: RCV000712162
• dbSNP Id: rs193929356
• MyVariant Identifiers: chr11:g.17408650T>A (hg19) ; chr11:g.17387103T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387103T>A , CM000673.2:g.17387103T>A	GRCh38
NC_000011.9:g.17408650T>A , CM000673.1:g.17408650T>A	GRCh37
NC_000011.8:g.17365226T>A	NCBI36
NG_012446.1:g.6557A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682350.1:c.728A>T	ENSP00000508090.1:p.Tyr243Phe
ENST00000682764.1:c.728A>T	ENSP00000506780.1:p.Tyr243Phe
ENST00000339994.5:c.989A>T MANE Select	ENSP00000345708.4:p.Tyr330Phe
ENST00000339994.4:c.989A>T	ENSP00000345708.4:p.Tyr330Phe
ENST00000528731.1:c.728A>T	ENSP00000434755.1:p.Tyr243Phe
NM_000525.3:c.989A>T	NP_000516.3:p.Tyr330Phe
NM_001166290.1:c.728A>T	NP_001159762.1:p.Tyr243Phe
XM_006718226.2:c.728A>T	XP_006718289.1:p.Tyr243Phe
XR_930867.1:n.1147A>T
XM_006718226.3:c.728A>T	XP_006718289.1:p.Tyr243Phe
XM_017017680.1:c.728A>T	XP_016873169.1:p.Tyr243Phe
NM_001166290.2:c.728A>T	NP_001159762.1:p.Tyr243Phe
NM_001377296.1:c.728A>T	NP_001364225.1:p.Tyr243Phe
NM_001377297.1:c.728A>T	NP_001364226.1:p.Tyr243Phe
NM_000525.4:c.989A>T MANE Select	NP_000516.3:p.Tyr330Phe