Canonical Allele Identifier: CA119837

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 8685
• ClinVar RCV Id: RCV000009222 ; RCV000020349 ; RCV002226645
• dbSNP Id: rs80356615
• MyVariant Identifiers: chr11:g.17409481C>T (hg19) ; chr11:g.17387934C>T (hg38)
• PubMed: PMID:18073297 ; PMID:20301620

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387934C>T , CM000673.2:g.17387934C>T	GRCh38
NC_000011.9:g.17409481C>T , CM000673.1:g.17409481C>T	GRCh37
NC_000011.8:g.17366057C>T	NCBI36
NG_012446.1:g.5726G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000528992.2:c.-71G>A	ENSP00000436479.2:n.-71G>A
ENST00000682350.1:c.-16-88G>A	ENSP00000508090.1:n.-16-88G>A
ENST00000682764.1:c.-16-88G>A	ENSP00000506780.1:n.-16-88G>A
ENST00000339994.5:c.158G>A MANE Select	ENSP00000345708.4:p.Gly53Asp
ENST00000339994.4:c.158G>A	ENSP00000345708.4:p.Gly53Asp
ENST00000526912.1:c.-17+84G>A	ENSP00000432729.1:n.-17+84G>A
ENST00000528731.1:c.-16-88G>A	ENSP00000434755.1:n.-16-88G>A
ENST00000528992.1:c.175G>A
NM_000525.3:c.158G>A	NP_000516.3:p.Gly53Asp
NM_001166290.1:c.-16-88G>A	NP_001159762.1:n.-16-88G>A
XM_006718226.2:c.-16-88G>A	XP_006718289.1:n.-16-88G>A
XR_930867.1:n.316G>A
XM_006718226.3:c.-16-88G>A	XP_006718289.1:n.-16-88G>A
XM_017017680.1:c.-16-88G>A	XP_016873169.1:n.-16-88G>A
NM_001166290.2:c.-16-88G>A	NP_001159762.1:n.-16-88G>A
NM_001377296.1:c.-17+84G>A	NP_001364225.1:n.-17+84G>A
NM_001377297.1:c.-16-88G>A	NP_001364226.1:n.-16-88G>A
NM_000525.4:c.158G>A MANE Select	NP_000516.3:p.Gly53Asp