Canonical Allele Identifier: CA379776373

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 2137003
• ClinVar RCV Id: RCV003062336
• MyVariant Identifiers: chr11:g.17409491G>C (hg19) ; chr11:g.17387944G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387944G>C , CM000673.2:g.17387944G>C	GRCh38
NC_000011.9:g.17409491G>C , CM000673.1:g.17409491G>C	GRCh37
NC_000011.8:g.17366067G>C	NCBI36
NG_012446.1:g.5716C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000528992.2:c.-81C>G	ENSP00000436479.2:n.-81C>G
ENST00000682350.1:c.-16-98C>G	ENSP00000508090.1:n.-16-98C>G
ENST00000682764.1:c.-16-98C>G	ENSP00000506780.1:n.-16-98C>G
ENST00000339994.5:c.148C>G MANE Select	ENSP00000345708.4:p.Arg50Gly
ENST00000339994.4:c.148C>G	ENSP00000345708.4:p.Arg50Gly
ENST00000526912.1:c.-17+74C>G	ENSP00000432729.1:n.-17+74C>G
ENST00000528731.1:c.-16-98C>G	ENSP00000434755.1:n.-16-98C>G
ENST00000528992.1:c.165C>G
NM_000525.3:c.148C>G	NP_000516.3:p.Arg50Gly
NM_001166290.1:c.-16-98C>G	NP_001159762.1:n.-16-98C>G
XM_006718226.2:c.-16-98C>G	XP_006718289.1:n.-16-98C>G
XR_930867.1:n.306C>G
XM_006718226.3:c.-16-98C>G	XP_006718289.1:n.-16-98C>G
XM_017017680.1:c.-16-98C>G	XP_016873169.1:n.-16-98C>G
NM_001166290.2:c.-16-98C>G	NP_001159762.1:n.-16-98C>G
NM_001377296.1:c.-17+74C>G	NP_001364225.1:n.-17+74C>G
NM_001377297.1:c.-16-98C>G	NP_001364226.1:n.-16-98C>G
NM_000525.4:c.148C>G MANE Select	NP_000516.3:p.Arg50Gly