Canonical Allele Identifier: CA5902184

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 256362
• ClinVar RCV Id: RCV000242346 ; RCV001106523 ; RCV001106524 ; RCV001106525 ; RCV002227103 ; RCV000969055 ; RCV001833270 ; RCV003165688
• dbSNP Id: rs143276279
• ExAC: 11:17408544 G / A
• gnomAD v2: 11-17408544-G-A
• gnomAD v3: 11-17386997-G-A
• gnomAD v4: 11-17386997-G-A
• MyVariant Identifiers: chr11:g.17408544G>A (hg19) ; chr11:g.17386997G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17386997G>A , CM000673.2:g.17386997G>A	GRCh38
NC_000011.9:g.17408544G>A , CM000673.1:g.17408544G>A	GRCh37
NC_000011.8:g.17365120G>A	NCBI36
NG_012446.1:g.6663C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.834C>T	ENSP00000508090.1:p.Arg278=
ENST00000682764.1:c.834C>T	ENSP00000506780.1:p.Arg278=
ENST00000339994.5:c.1095C>T MANE Select	ENSP00000345708.4:p.Arg365=
ENST00000339994.4:c.1095C>T	ENSP00000345708.4:p.Arg365=
ENST00000528731.1:c.834C>T	ENSP00000434755.1:p.Arg278=
NM_000525.3:c.1095C>T	NP_000516.3:p.Arg365=
NM_001166290.1:c.834C>T	NP_001159762.1:p.Arg278=
XM_006718226.2:c.834C>T	XP_006718289.1:p.Arg278=
XR_930867.1:n.1253C>T
XM_006718226.3:c.834C>T	XP_006718289.1:p.Arg278=
XM_017017680.1:c.834C>T	XP_016873169.1:p.Arg278=
NM_001166290.2:c.834C>T	NP_001159762.1:p.Arg278=
NM_001377296.1:c.834C>T	NP_001364225.1:p.Arg278=
NM_001377297.1:c.834C>T	NP_001364226.1:p.Arg278=
NM_000525.4:c.1095C>T MANE Select	NP_000516.3:p.Arg365=