Canonical Allele Identifier: CA2612640615

Gene: KCNJ11

Linked Data

• gnomAD v4: 11-17388269-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17388269G>A , CM000673.2:g.17388269G>A	GRCh38
NC_000011.9:g.17409816G>A , CM000673.1:g.17409816G>A	GRCh37
NC_000011.8:g.17366392G>A	NCBI36
NG_012446.1:g.5391C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528992.2:c.-213-193C>T	ENSP00000436479.2:n.-213-193C>T
ENST00000682350.1:c.-16-423C>T	ENSP00000508090.1:n.-16-423C>T
ENST00000682764.1:c.-16-423C>T	ENSP00000506780.1:n.-16-423C>T
ENST00000339994.5:c.-178C>T MANE Select	ENSP00000345708.4:n.-178C>T
ENST00000339994.4:c.-178C>T	ENSP00000345708.4:n.-178C>T
ENST00000526912.1:c.-75-193C>T	ENSP00000432729.1:n.-75-193C>T
ENST00000528731.1:c.-16-423C>T	ENSP00000434755.1:n.-16-423C>T
ENST00000528992.1:c.33-193C>T
NM_000525.3:c.-178C>T	NP_000516.3:n.-178C>T
NM_001166290.1:c.-16-423C>T	NP_001159762.1:n.-16-423C>T
XM_006718226.2:c.-16-423C>T	XP_006718289.1:n.-16-423C>T
XM_006718226.3:c.-16-423C>T	XP_006718289.1:n.-16-423C>T
XM_017017680.1:c.-16-423C>T	XP_016873169.1:n.-16-423C>T
NM_001166290.2:c.-16-423C>T	NP_001159762.1:n.-16-423C>T
NM_001377296.1:c.-75-193C>T	NP_001364225.1:n.-75-193C>T
NM_001377297.1:c.-16-423C>T	NP_001364226.1:n.-16-423C>T
NM_000525.4:c.-178C>T MANE Select	NP_000516.3:n.-178C>T