Canonical Allele Identifier: CA473515942

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 1119530
• ClinVar RCV Id: RCV001448997
• dbSNP Id: rs1336022547
• gnomAD v4: 11-17387924-C-A
• MyVariant Identifiers: chr11:g.17409471C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387924C>A , CM000673.2:g.17387924C>A	GRCh38
NC_000011.9:g.17409471C>A , CM000673.1:g.17409471C>A	GRCh37
NC_000011.8:g.17366047C>A	NCBI36
NG_012446.1:g.5736G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528992.2:c.-61G>T	ENSP00000436479.2:n.-61G>T
ENST00000682350.1:c.-16-78G>T	ENSP00000508090.1:n.-16-78G>T
ENST00000682764.1:c.-16-78G>T	ENSP00000506780.1:n.-16-78G>T
ENST00000339994.5:c.168G>T MANE Select	ENSP00000345708.4:p.Leu56=
ENST00000339994.4:c.168G>T	ENSP00000345708.4:p.Leu56=
ENST00000526912.1:c.-16-78G>T	ENSP00000432729.1:n.-16-78G>T
ENST00000528731.1:c.-16-78G>T	ENSP00000434755.1:n.-16-78G>T
ENST00000528992.1:c.185G>T
NM_000525.3:c.168G>T	NP_000516.3:p.Leu56=
NM_001166290.1:c.-16-78G>T	NP_001159762.1:n.-16-78G>T
XM_006718226.2:c.-16-78G>T	XP_006718289.1:n.-16-78G>T
XR_930867.1:n.326G>T
XM_006718226.3:c.-16-78G>T	XP_006718289.1:n.-16-78G>T
XM_017017680.1:c.-16-78G>T	XP_016873169.1:n.-16-78G>T
NM_001166290.2:c.-16-78G>T	NP_001159762.1:n.-16-78G>T
NM_001377296.1:c.-16-78G>T	NP_001364225.1:n.-16-78G>T
NM_001377297.1:c.-16-78G>T	NP_001364226.1:n.-16-78G>T
NM_000525.4:c.168G>T MANE Select	NP_000516.3:p.Leu56=