Canonical Allele Identifier: CA2612638220

Gene: KCNJ11

Linked Data

• gnomAD v4: 11-17386879-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17386879G>C , CM000673.2:g.17386879G>C	GRCh38
NC_000011.9:g.17408426G>C , CM000673.1:g.17408426G>C	GRCh37
NC_000011.8:g.17365002G>C	NCBI36
NG_012446.1:g.6781C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.*40C>G	ENSP00000508090.1:n.*40C>G
ENST00000682764.1:c.*40C>G	ENSP00000506780.1:n.*40C>G
ENST00000339994.5:c.*40C>G MANE Select	ENSP00000345708.4:n.*40C>G
ENST00000339994.4:c.*40C>G	ENSP00000345708.4:n.*40C>G
ENST00000528731.1:c.*40C>G	ENSP00000434755.1:n.*40C>G
NM_000525.3:c.*40C>G	NP_000516.3:n.*40C>G
NM_001166290.1:c.*40C>G	NP_001159762.1:n.*40C>G
XM_006718226.2:c.*40C>G	XP_006718289.1:n.*40C>G
XR_930867.1:n.1371C>G
XM_006718226.3:c.*40C>G	XP_006718289.1:n.*40C>G
XM_017017680.1:c.*40C>G	XP_016873169.1:n.*40C>G
NM_001166290.2:c.*40C>G	NP_001159762.1:n.*40C>G
NM_001377296.1:c.*40C>G	NP_001364225.1:n.*40C>G
NM_001377297.1:c.*40C>G	NP_001364226.1:n.*40C>G
NM_000525.4:c.*40C>G MANE Select	NP_000516.3:n.*40C>G