Canonical Allele Identifier: CA674174357

Gene: KCNJ11

Linked Data

• dbSNP Id: rs1313986273
• gnomAD v3: 11-17387940-TC-T
• gnomAD v4: 11-17387940-TC-T
• MyVariant Identifiers: chr11:g.17409488del (hg19) ; chr11:g.17387941del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387943del , CM000673.2:g.17387943del	GRCh38
NC_000011.9:g.17409490del , CM000673.1:g.17409490del	GRCh37
NC_000011.8:g.17366066del	NCBI36
NG_012446.1:g.5719del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528992.2:c.-78del	ENSP00000436479.2:n.-78del
ENST00000682350.1:c.-16-95del	ENSP00000508090.1:n.-16-95del
ENST00000682764.1:c.-16-95del	ENSP00000506780.1:n.-16-95del
ENST00000339994.5:c.151del MANE Select	ENSP00000345708.4:p.Glu51SerfsTer?
ENST00000339994.4:c.151del	ENSP00000345708.4:p.Glu51SerfsTer?
ENST00000526912.1:c.-17+77del	ENSP00000432729.1:n.-17+77del
ENST00000528731.1:c.-16-95del	ENSP00000434755.1:n.-16-95del
ENST00000528992.1:c.168del
NM_000525.3:c.151del	NP_000516.3:p.Glu51SerfsTer?
NM_001166290.1:c.-16-95del	NP_001159762.1:n.-16-95del
XM_006718226.2:c.-16-95del	XP_006718289.1:n.-16-95del
XR_930867.1:n.309del
XM_006718226.3:c.-16-95del	XP_006718289.1:n.-16-95del
XM_017017680.1:c.-16-95del	XP_016873169.1:n.-16-95del
NM_001166290.2:c.-16-95del	NP_001159762.1:n.-16-95del
NM_001377296.1:c.-17+77del	NP_001364225.1:n.-17+77del
NM_001377297.1:c.-16-95del	NP_001364226.1:n.-16-95del
NM_000525.4:c.151del MANE Select	NP_000516.3:p.Glu51SerfsTer?