Canonical Allele Identifier: CA340811

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 8682
• ClinVar RCV Id: RCV000009219
• dbSNP Id: rs80356613
• MyVariant Identifiers: chr11:g.17409482C>G (hg19) ; chr11:g.17387935C>G (hg38)
• PubMed: PMID:15718250 ; PMID:20301620

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387935C>G , CM000673.2:g.17387935C>G	GRCh38
NC_000011.9:g.17409482C>G , CM000673.1:g.17409482C>G	GRCh37
NC_000011.8:g.17366058C>G	NCBI36
NG_012446.1:g.5725G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000528992.2:c.-72G>C	ENSP00000436479.2:n.-72G>C
ENST00000682350.1:c.-16-89G>C	ENSP00000508090.1:n.-16-89G>C
ENST00000682764.1:c.-16-89G>C	ENSP00000506780.1:n.-16-89G>C
ENST00000339994.5:c.157G>C MANE Select	ENSP00000345708.4:p.Gly53Arg
ENST00000339994.4:c.157G>C	ENSP00000345708.4:p.Gly53Arg
ENST00000526912.1:c.-17+83G>C	ENSP00000432729.1:n.-17+83G>C
ENST00000528731.1:c.-16-89G>C	ENSP00000434755.1:n.-16-89G>C
ENST00000528992.1:c.174G>C
NM_000525.3:c.157G>C	NP_000516.3:p.Gly53Arg
NM_001166290.1:c.-16-89G>C	NP_001159762.1:n.-16-89G>C
XM_006718226.2:c.-16-89G>C	XP_006718289.1:n.-16-89G>C
XR_930867.1:n.315G>C
XM_006718226.3:c.-16-89G>C	XP_006718289.1:n.-16-89G>C
XM_017017680.1:c.-16-89G>C	XP_016873169.1:n.-16-89G>C
NM_001166290.2:c.-16-89G>C	NP_001159762.1:n.-16-89G>C
NM_001377296.1:c.-17+83G>C	NP_001364225.1:n.-17+83G>C
NM_001377297.1:c.-16-89G>C	NP_001364226.1:n.-16-89G>C
NM_000525.4:c.157G>C MANE Select	NP_000516.3:p.Gly53Arg