Canonical Allele Identifier: CA2612637697

Gene: KCNJ11

Linked Data

• gnomAD v4: 11-17386755-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17386755T>A , CM000673.2:g.17386755T>A	GRCh38
NC_000011.9:g.17408302T>A , CM000673.1:g.17408302T>A	GRCh37
NC_000011.8:g.17364878T>A	NCBI36
NG_012446.1:g.6905A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.*164A>T	ENSP00000508090.1:n.*164A>T
ENST00000682764.1:c.*50+114A>T	ENSP00000506780.1:n.*50+114A>T
ENST00000339994.5:c.*164A>T MANE Select	ENSP00000345708.4:n.*164A>T
ENST00000339994.4:c.*164A>T	ENSP00000345708.4:n.*164A>T
ENST00000528731.1:c.*164A>T	ENSP00000434755.1:n.*164A>T
NM_000525.3:c.*164A>T	NP_000516.3:n.*164A>T
NM_001166290.1:c.*164A>T	NP_001159762.1:n.*164A>T
XM_006718226.2:c.*164A>T	XP_006718289.1:n.*164A>T
XR_930867.1:n.1381+114A>T
XM_006718226.3:c.*164A>T	XP_006718289.1:n.*164A>T
XM_017017680.1:c.*164A>T	XP_016873169.1:n.*164A>T
NM_001166290.2:c.*164A>T	NP_001159762.1:n.*164A>T
NM_001377296.1:c.*164A>T	NP_001364225.1:n.*164A>T
NM_001377297.1:c.*164A>T	NP_001364226.1:n.*164A>T
NM_000525.4:c.*164A>T MANE Select	NP_000516.3:n.*164A>T