Canonical Allele Identifier: CA379770445

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 2969579
• ClinVar RCV Id: RCV003821713
• dbSNP Id: rs764950479
• gnomAD v4: 11-17387264-G-T
• MyVariant Identifiers: chr11:g.17408811G>T (hg19) ; chr11:g.17387264G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387264G>T , CM000673.2:g.17387264G>T	GRCh38
NC_000011.9:g.17408811G>T , CM000673.1:g.17408811G>T	GRCh37
NC_000011.8:g.17365387G>T	NCBI36
NG_012446.1:g.6396C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.567C>A	ENSP00000508090.1:p.His189Gln
ENST00000682764.1:c.567C>A	ENSP00000506780.1:p.His189Gln
ENST00000339994.5:c.828C>A MANE Select	ENSP00000345708.4:p.His276Gln
ENST00000339994.4:c.828C>A	ENSP00000345708.4:p.His276Gln
ENST00000528731.1:c.567C>A	ENSP00000434755.1:p.His189Gln
NM_000525.3:c.828C>A	NP_000516.3:p.His276Gln
NM_001166290.1:c.567C>A	NP_001159762.1:p.His189Gln
XM_006718226.2:c.567C>A	XP_006718289.1:p.His189Gln
XR_930867.1:n.986C>A
XM_006718226.3:c.567C>A	XP_006718289.1:p.His189Gln
XM_017017680.1:c.567C>A	XP_016873169.1:p.His189Gln
NM_001166290.2:c.567C>A	NP_001159762.1:p.His189Gln
NM_001377296.1:c.567C>A	NP_001364225.1:p.His189Gln
NM_001377297.1:c.567C>A	NP_001364226.1:p.His189Gln
NM_000525.4:c.828C>A MANE Select	NP_000516.3:p.His276Gln