Canonical Allele Identifier: CA10638582
Gene: KCNJ11 HGNC NCBI

Linked Data

ClinVar Variation Id: 303708
ClinVar RCV Id: RCV000306184 RCV000360912 RCV000407199 RCV002274011 RCV003409468
dbSNP Id: rs191682072
gnomAD v2: 11-17407269-C-T
gnomAD v3: 11-17385722-C-T
gnomAD v4: 11-17385722-C-T
MyVariant Identifiers: chr11:g.17407269C>T (hg19) chr11:g.17385722C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17385722C>T , CM000673.2:g.17385722C>T GRCh38
NC_000011.9:g.17407269C>T , CM000673.1:g.17407269C>T GRCh37
NC_000011.8:g.17363845C>T NCBI36
NG_012446.1:g.7938G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682764.1:c.*50+1147G>A ENSP00000506780.1:n.*50+1147G>A
ENST00000339994.5:c.*1197G>A MANE Select ENSP00000345708.4:n.*1197G>A
NM_000525.3:c.*1197G>A NP_000516.3:n.*1197G>A
NM_001166290.1:c.*1197G>A NP_001159762.1:n.*1197G>A
XM_006718226.2:c.*1197G>A XP_006718289.1:n.*1197G>A
XR_930867.1:n.1381+1147G>A
XM_006718226.3:c.*1197G>A XP_006718289.1:n.*1197G>A
XM_017017680.1:c.*1197G>A XP_016873169.1:n.*1197G>A
NM_001166290.2:c.*1197G>A NP_001159762.1:n.*1197G>A
NM_001377296.1:c.*1197G>A NP_001364225.1:n.*1197G>A
NM_001377297.1:c.*1197G>A NP_001364226.1:n.*1197G>A
NM_000525.4:c.*1197G>A MANE Select NP_000516.3:n.*1197G>A
Search 100 bp 5'
Search 100 bp 3'