Canonical Allele Identifier: CA379773062

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 1679207
• ClinVar RCV Id: RCV002226804 ; RCV002304239
• dbSNP Id: rs587783670
• gnomAD v2: 11-17409118-G-T
• gnomAD v4: 11-17387571-G-T
• MyVariant Identifiers: chr11:g.17409118G>T (hg19) ; chr11:g.17387571G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387571G>T , CM000673.2:g.17387571G>T	GRCh38
NC_000011.9:g.17409118G>T , CM000673.1:g.17409118G>T	GRCh37
NC_000011.8:g.17365694G>T	NCBI36
NG_012446.1:g.6089C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682350.1:c.260C>A	ENSP00000508090.1:p.Ala87Asp
ENST00000682764.1:c.260C>A	ENSP00000506780.1:p.Ala87Asp
ENST00000339994.5:c.521C>A MANE Select	ENSP00000345708.4:p.Ala174Asp
ENST00000339994.4:c.521C>A	ENSP00000345708.4:p.Ala174Asp
ENST00000526912.1:c.260C>A	ENSP00000432729.1:p.Ala87Asp
ENST00000528731.1:c.260C>A	ENSP00000434755.1:p.Ala87Asp
NM_000525.3:c.521C>A	NP_000516.3:p.Ala174Asp
NM_001166290.1:c.260C>A	NP_001159762.1:p.Ala87Asp
XM_006718226.2:c.260C>A	XP_006718289.1:p.Ala87Asp
XR_930867.1:n.679C>A
XM_006718226.3:c.260C>A	XP_006718289.1:p.Ala87Asp
XM_017017680.1:c.260C>A	XP_016873169.1:p.Ala87Asp
NM_001166290.2:c.260C>A	NP_001159762.1:p.Ala87Asp
NM_001377296.1:c.260C>A	NP_001364225.1:p.Ala87Asp
NM_001377297.1:c.260C>A	NP_001364226.1:p.Ala87Asp
NM_000525.4:c.521C>A MANE Select	NP_000516.3:p.Ala174Asp