Canonical Allele Identifier: CA218399602

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 2051036
• ClinVar RCV Id: RCV002922232
• dbSNP Id: rs992548655
• MyVariant Identifiers: chr11:g.17408861C>T (hg19) ; chr11:g.17387314C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387314C>T , CM000673.2:g.17387314C>T	GRCh38
NC_000011.9:g.17408861C>T , CM000673.1:g.17408861C>T	GRCh37
NC_000011.8:g.17365437C>T	NCBI36
NG_012446.1:g.6346G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682350.1:c.517G>A	ENSP00000508090.1:p.Val173Ile
ENST00000682764.1:c.517G>A	ENSP00000506780.1:p.Val173Ile
ENST00000339994.5:c.778G>A MANE Select	ENSP00000345708.4:p.Val260Ile
ENST00000339994.4:c.778G>A	ENSP00000345708.4:p.Val260Ile
ENST00000528731.1:c.517G>A	ENSP00000434755.1:p.Val173Ile
NM_000525.3:c.778G>A	NP_000516.3:p.Val260Ile
NM_001166290.1:c.517G>A	NP_001159762.1:p.Val173Ile
XM_006718226.2:c.517G>A	XP_006718289.1:p.Val173Ile
XR_930867.1:n.936G>A
XM_006718226.3:c.517G>A	XP_006718289.1:p.Val173Ile
XM_017017680.1:c.517G>A	XP_016873169.1:p.Val173Ile
NM_001166290.2:c.517G>A	NP_001159762.1:p.Val173Ile
NM_001377296.1:c.517G>A	NP_001364225.1:p.Val173Ile
NM_001377297.1:c.517G>A	NP_001364226.1:p.Val173Ile
NM_000525.4:c.778G>A MANE Select	NP_000516.3:p.Val260Ile