Canonical Allele Identifier: CA473515723

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 989947
• ClinVar RCV Id: RCV001277855
• dbSNP Id: rs1287370462
• gnomAD v2: 11-17409590-G-A
• MyVariant Identifiers: chr11:g.17409590G>A (hg19) ; chr11:g.17388043G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17388043G>A , CM000673.2:g.17388043G>A	GRCh38
NC_000011.9:g.17409590G>A , CM000673.1:g.17409590G>A	GRCh37
NC_000011.8:g.17366166G>A	NCBI36
NG_012446.1:g.5617C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000528992.2:c.-180C>T	ENSP00000436479.2:n.-180C>T
ENST00000682350.1:c.-16-197C>T	ENSP00000508090.1:n.-16-197C>T
ENST00000682764.1:c.-16-197C>T	ENSP00000506780.1:n.-16-197C>T
ENST00000339994.5:c.49C>T MANE Select	ENSP00000345708.4:p.Leu17=
ENST00000339994.4:c.49C>T	ENSP00000345708.4:p.Leu17=
ENST00000526912.1:c.-42C>T	ENSP00000432729.1:n.-42C>T
ENST00000528731.1:c.-16-197C>T	ENSP00000434755.1:n.-16-197C>T
ENST00000528992.1:c.66C>T
NM_000525.3:c.49C>T	NP_000516.3:p.Leu17=
NM_001166290.1:c.-16-197C>T	NP_001159762.1:n.-16-197C>T
XM_006718226.2:c.-16-197C>T	XP_006718289.1:n.-16-197C>T
XR_930867.1:n.207C>T
XM_006718226.3:c.-16-197C>T	XP_006718289.1:n.-16-197C>T
XM_017017680.1:c.-16-197C>T	XP_016873169.1:n.-16-197C>T
NM_001166290.2:c.-16-197C>T	NP_001159762.1:n.-16-197C>T
NM_001377296.1:c.-42C>T	NP_001364225.1:n.-42C>T
NM_001377297.1:c.-16-197C>T	NP_001364226.1:n.-16-197C>T
NM_000525.4:c.49C>T MANE Select	NP_000516.3:p.Leu17=