Canonical Allele Identifier: CA379776885

Gene: KCNJ11

Linked Data

• gnomAD v4: 11-17387980-T-G
• MyVariant Identifiers: chr11:g.17409527T>G (hg19) ; chr11:g.17387980T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387980T>G , CM000673.2:g.17387980T>G	GRCh38
NC_000011.9:g.17409527T>G , CM000673.1:g.17409527T>G	GRCh37
NC_000011.8:g.17366103T>G	NCBI36
NG_012446.1:g.5680A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528992.2:c.-117A>C	ENSP00000436479.2:n.-117A>C
ENST00000682350.1:c.-16-134A>C	ENSP00000508090.1:n.-16-134A>C
ENST00000682764.1:c.-16-134A>C	ENSP00000506780.1:n.-16-134A>C
ENST00000339994.5:c.112A>C MANE Select	ENSP00000345708.4:p.Lys38Gln
ENST00000339994.4:c.112A>C	ENSP00000345708.4:p.Lys38Gln
ENST00000526912.1:c.-17+38A>C	ENSP00000432729.1:n.-17+38A>C
ENST00000528731.1:c.-16-134A>C	ENSP00000434755.1:n.-16-134A>C
ENST00000528992.1:c.129A>C
NM_000525.3:c.112A>C	NP_000516.3:p.Lys38Gln
NM_001166290.1:c.-16-134A>C	NP_001159762.1:n.-16-134A>C
XM_006718226.2:c.-16-134A>C	XP_006718289.1:n.-16-134A>C
XR_930867.1:n.270A>C
XM_006718226.3:c.-16-134A>C	XP_006718289.1:n.-16-134A>C
XM_017017680.1:c.-16-134A>C	XP_016873169.1:n.-16-134A>C
NM_001166290.2:c.-16-134A>C	NP_001159762.1:n.-16-134A>C
NM_001377296.1:c.-17+38A>C	NP_001364225.1:n.-17+38A>C
NM_001377297.1:c.-16-134A>C	NP_001364226.1:n.-16-134A>C
NM_000525.4:c.112A>C MANE Select	NP_000516.3:p.Lys38Gln