Canonical Allele Identifier: CA207945

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 211221
• ClinVar RCV Id: RCV000194046 ; RCV000272386 ; RCV000285274 ; RCV000335585 ; RCV000380410 ; RCV000969057 ; RCV001093944 ; RCV001093945 ; RCV001103644 ; RCV002444779
• dbSNP Id: rs112070496
• ExAC: 11:17409531 C / T
• gnomAD v2: 11-17409531-C-T
• gnomAD v3: 11-17387984-C-T
• gnomAD v4: 11-17387984-C-T
• MyVariant Identifiers: chr11:g.17409531C>T (hg19) ; chr11:g.17387984C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387984C>T , CM000673.2:g.17387984C>T	GRCh38
NC_000011.9:g.17409531C>T , CM000673.1:g.17409531C>T	GRCh37
NC_000011.8:g.17366107C>T	NCBI36
NG_012446.1:g.5676G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000528992.2:c.-121G>A	ENSP00000436479.2:n.-121G>A
ENST00000682350.1:c.-16-138G>A	ENSP00000508090.1:n.-16-138G>A
ENST00000682764.1:c.-16-138G>A	ENSP00000506780.1:n.-16-138G>A
ENST00000339994.5:c.108G>A MANE Select	ENSP00000345708.4:p.Val36=
ENST00000339994.4:c.108G>A	ENSP00000345708.4:p.Val36=
ENST00000526912.1:c.-17+34G>A	ENSP00000432729.1:n.-17+34G>A
ENST00000528731.1:c.-16-138G>A	ENSP00000434755.1:n.-16-138G>A
ENST00000528992.1:c.125G>A
NM_000525.3:c.108G>A	NP_000516.3:p.Val36=
NM_001166290.1:c.-16-138G>A	NP_001159762.1:n.-16-138G>A
XM_006718226.2:c.-16-138G>A	XP_006718289.1:n.-16-138G>A
XR_930867.1:n.266G>A
XM_006718226.3:c.-16-138G>A	XP_006718289.1:n.-16-138G>A
XM_017017680.1:c.-16-138G>A	XP_016873169.1:n.-16-138G>A
NM_001166290.2:c.-16-138G>A	NP_001159762.1:n.-16-138G>A
NM_001377296.1:c.-17+34G>A	NP_001364225.1:n.-17+34G>A
NM_001377297.1:c.-16-138G>A	NP_001364226.1:n.-16-138G>A
NM_000525.4:c.108G>A MANE Select	NP_000516.3:p.Val36=