Canonical Allele Identifier: CA379770341

Gene: KCNJ11

Linked Data

• gnomAD v4: 11-17387251-G-C
• MyVariant Identifiers: chr11:g.17408798G>C (hg19) ; chr11:g.17387251G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387251G>C , CM000673.2:g.17387251G>C	GRCh38
NC_000011.9:g.17408798G>C , CM000673.1:g.17408798G>C	GRCh37
NC_000011.8:g.17365374G>C	NCBI36
NG_012446.1:g.6409C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682350.1:c.580C>G	ENSP00000508090.1:p.Leu194Val
ENST00000682764.1:c.580C>G	ENSP00000506780.1:p.Leu194Val
ENST00000339994.5:c.841C>G MANE Select	ENSP00000345708.4:p.Leu281Val
ENST00000339994.4:c.841C>G	ENSP00000345708.4:p.Leu281Val
ENST00000528731.1:c.580C>G	ENSP00000434755.1:p.Leu194Val
NM_000525.3:c.841C>G	NP_000516.3:p.Leu281Val
NM_001166290.1:c.580C>G	NP_001159762.1:p.Leu194Val
XM_006718226.2:c.580C>G	XP_006718289.1:p.Leu194Val
XR_930867.1:n.999C>G
XM_006718226.3:c.580C>G	XP_006718289.1:p.Leu194Val
XM_017017680.1:c.580C>G	XP_016873169.1:p.Leu194Val
NM_001166290.2:c.580C>G	NP_001159762.1:p.Leu194Val
NM_001377296.1:c.580C>G	NP_001364225.1:p.Leu194Val
NM_001377297.1:c.580C>G	NP_001364226.1:p.Leu194Val
NM_000525.4:c.841C>G MANE Select	NP_000516.3:p.Leu281Val