Canonical Allele Identifier: CA379774091

Gene: KCNJ11

Linked Data

• dbSNP Id: rs1440836720
• gnomAD v2: 11-17409260-C-T
• gnomAD v4: 11-17387713-C-T
• MyVariant Identifiers: chr11:g.17409260C>T (hg19) ; chr11:g.17387713C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387713C>T , CM000673.2:g.17387713C>T	GRCh38
NC_000011.9:g.17409260C>T , CM000673.1:g.17409260C>T	GRCh37
NC_000011.8:g.17365836C>T	NCBI36
NG_012446.1:g.5947G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528992.2:c.151G>A	ENSP00000436479.2:p.Val51Ile
ENST00000682350.1:c.118G>A	ENSP00000508090.1:p.Val40Ile
ENST00000682764.1:c.118G>A	ENSP00000506780.1:p.Val40Ile
ENST00000339994.5:c.379G>A MANE Select	ENSP00000345708.4:p.Val127Ile
ENST00000339994.4:c.379G>A	ENSP00000345708.4:p.Val127Ile
ENST00000526912.1:c.118G>A	ENSP00000432729.1:p.Val40Ile
ENST00000528731.1:c.118G>A	ENSP00000434755.1:p.Val40Ile
ENST00000528992.1:c.396G>A
NM_000525.3:c.379G>A	NP_000516.3:p.Val127Ile
NM_001166290.1:c.118G>A	NP_001159762.1:p.Val40Ile
XM_006718226.2:c.118G>A	XP_006718289.1:p.Val40Ile
XR_930867.1:n.537G>A
XM_006718226.3:c.118G>A	XP_006718289.1:p.Val40Ile
XM_017017680.1:c.118G>A	XP_016873169.1:p.Val40Ile
NM_001166290.2:c.118G>A	NP_001159762.1:p.Val40Ile
NM_001377296.1:c.118G>A	NP_001364225.1:p.Val40Ile
NM_001377297.1:c.118G>A	NP_001364226.1:p.Val40Ile
NM_000525.4:c.379G>A MANE Select	NP_000516.3:p.Val127Ile