Canonical Allele Identifier: CA2612638283

Gene: KCNJ11

Linked Data

• gnomAD v4: 11-17386901-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17386901G>T , CM000673.2:g.17386901G>T	GRCh38
NC_000011.9:g.17408448G>T , CM000673.1:g.17408448G>T	GRCh37
NC_000011.8:g.17365024G>T	NCBI36
NG_012446.1:g.6759C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682350.1:c.*18C>A	ENSP00000508090.1:n.*18C>A
ENST00000682764.1:c.*18C>A	ENSP00000506780.1:n.*18C>A
ENST00000339994.5:c.*18C>A MANE Select	ENSP00000345708.4:n.*18C>A
ENST00000339994.4:c.*18C>A	ENSP00000345708.4:n.*18C>A
ENST00000528731.1:c.*18C>A	ENSP00000434755.1:n.*18C>A
NM_000525.3:c.*18C>A	NP_000516.3:n.*18C>A
NM_001166290.1:c.*18C>A	NP_001159762.1:n.*18C>A
XM_006718226.2:c.*18C>A	XP_006718289.1:n.*18C>A
XR_930867.1:n.1349C>A
XM_006718226.3:c.*18C>A	XP_006718289.1:n.*18C>A
XM_017017680.1:c.*18C>A	XP_016873169.1:n.*18C>A
NM_001166290.2:c.*18C>A	NP_001159762.1:n.*18C>A
NM_001377296.1:c.*18C>A	NP_001364225.1:n.*18C>A
NM_001377297.1:c.*18C>A	NP_001364226.1:n.*18C>A
NM_000525.4:c.*18C>A MANE Select	NP_000516.3:n.*18C>A