Canonical Allele Identifier: CA379772874

Gene: KCNJ11

Linked Data

• gnomAD v4: 11-17387551-G-T
• MyVariant Identifiers: chr11:g.17409098G>T (hg19) ; chr11:g.17387551G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387551G>T , CM000673.2:g.17387551G>T	GRCh38
NC_000011.9:g.17409098G>T , CM000673.1:g.17409098G>T	GRCh37
NC_000011.8:g.17365674G>T	NCBI36
NG_012446.1:g.6109C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682350.1:c.280C>A	ENSP00000508090.1:p.Leu94Ile
ENST00000682764.1:c.280C>A	ENSP00000506780.1:p.Leu94Ile
ENST00000339994.5:c.541C>A MANE Select	ENSP00000345708.4:p.Leu181Ile
ENST00000339994.4:c.541C>A	ENSP00000345708.4:p.Leu181Ile
ENST00000526912.1:c.280C>A	ENSP00000432729.1:p.Leu94Ile
ENST00000528731.1:c.280C>A	ENSP00000434755.1:p.Leu94Ile
NM_000525.3:c.541C>A	NP_000516.3:p.Leu181Ile
NM_001166290.1:c.280C>A	NP_001159762.1:p.Leu94Ile
XM_006718226.2:c.280C>A	XP_006718289.1:p.Leu94Ile
XR_930867.1:n.699C>A
XM_006718226.3:c.280C>A	XP_006718289.1:p.Leu94Ile
XM_017017680.1:c.280C>A	XP_016873169.1:p.Leu94Ile
NM_001166290.2:c.280C>A	NP_001159762.1:p.Leu94Ile
NM_001377296.1:c.280C>A	NP_001364225.1:p.Leu94Ile
NM_001377297.1:c.280C>A	NP_001364226.1:p.Leu94Ile
NM_000525.4:c.541C>A MANE Select	NP_000516.3:p.Leu181Ile