Canonical Allele Identifier: CA5902210

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 435560
• ClinVar RCV Id: RCV000502356 ; RCV000763718 ; RCV001573273
• dbSNP Id: rs550315112
• ExAC: 11:17408666 G / T
• gnomAD v2: 11-17408666-G-T
• gnomAD v3: 11-17387119-G-T
• gnomAD v4: 11-17387119-G-T
• MyVariant Identifiers: chr11:g.17408666G>T (hg19) ; chr11:g.17387119G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387119G>T , CM000673.2:g.17387119G>T	GRCh38
NC_000011.9:g.17408666G>T , CM000673.1:g.17408666G>T	GRCh37
NC_000011.8:g.17365242G>T	NCBI36
NG_012446.1:g.6541C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.712C>A	ENSP00000508090.1:p.Arg238Ser
ENST00000682764.1:c.712C>A	ENSP00000506780.1:p.Arg238Ser
ENST00000339994.5:c.973C>A MANE Select	ENSP00000345708.4:p.Arg325Ser
ENST00000339994.4:c.973C>A	ENSP00000345708.4:p.Arg325Ser
ENST00000528731.1:c.712C>A	ENSP00000434755.1:p.Arg238Ser
NM_000525.3:c.973C>A	NP_000516.3:p.Arg325Ser
NM_001166290.1:c.712C>A	NP_001159762.1:p.Arg238Ser
XM_006718226.2:c.712C>A	XP_006718289.1:p.Arg238Ser
XR_930867.1:n.1131C>A
XM_006718226.3:c.712C>A	XP_006718289.1:p.Arg238Ser
XM_017017680.1:c.712C>A	XP_016873169.1:p.Arg238Ser
NM_001166290.2:c.712C>A	NP_001159762.1:p.Arg238Ser
NM_001377296.1:c.712C>A	NP_001364225.1:p.Arg238Ser
NM_001377297.1:c.712C>A	NP_001364226.1:p.Arg238Ser
NM_000525.4:c.973C>A MANE Select	NP_000516.3:p.Arg325Ser