Canonical Allele Identifier: CA5902267

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 1679521
• ClinVar RCV Id: RCV002227400
• dbSNP Id: rs781450902
• ExAC: 11:17408978 G / A
• gnomAD v2: 11-17408978-G-A
• gnomAD v3: 11-17387431-G-A
• gnomAD v4: 11-17387431-G-A
• COSMIC: COSM6020938
• MyVariant Identifiers: chr11:g.17408978G>A (hg19) ; chr11:g.17387431G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387431G>A , CM000673.2:g.17387431G>A	GRCh38
NC_000011.9:g.17408978G>A , CM000673.1:g.17408978G>A	GRCh37
NC_000011.8:g.17365554G>A	NCBI36
NG_012446.1:g.6229C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682350.1:c.400C>T	ENSP00000508090.1:p.Arg134Cys
ENST00000682764.1:c.400C>T	ENSP00000506780.1:p.Arg134Cys
ENST00000339994.5:c.661C>T MANE Select	ENSP00000345708.4:p.Arg221Cys
ENST00000339994.4:c.661C>T	ENSP00000345708.4:p.Arg221Cys
ENST00000526912.1:c.400C>T	ENSP00000432729.1:p.Arg134Cys
ENST00000528731.1:c.400C>T	ENSP00000434755.1:p.Arg134Cys
NM_000525.3:c.661C>T	NP_000516.3:p.Arg221Cys
NM_001166290.1:c.400C>T	NP_001159762.1:p.Arg134Cys
XM_006718226.2:c.400C>T	XP_006718289.1:p.Arg134Cys
XR_930867.1:n.819C>T
XM_006718226.3:c.400C>T	XP_006718289.1:p.Arg134Cys
XM_017017680.1:c.400C>T	XP_016873169.1:p.Arg134Cys
NM_001166290.2:c.400C>T	NP_001159762.1:p.Arg134Cys
NM_001377296.1:c.400C>T	NP_001364225.1:p.Arg134Cys
NM_001377297.1:c.400C>T	NP_001364226.1:p.Arg134Cys
NM_000525.4:c.661C>T MANE Select	NP_000516.3:p.Arg221Cys