Canonical Allele Identifier: CA172316
Gene: KCNJ11 HGNC NCBI

Linked Data

ClinVar Variation Id: 158670
dbSNP Id: rs5215

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387083C>T , CM000673.2:g.17387083C>T GRCh38
NC_000011.9:g.17408630C>T , CM000673.1:g.17408630C>T GRCh37
NC_000011.8:g.17365206C>T NCBI36
NG_012446.1:g.6577G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000339994.5:c.1009G>A MANE Select ENSP00000345708.4:p.Val337Ile
ENST00000339994.4:c.1009G>A ENSP00000345708.4:p.Val337Ile
ENST00000528731.1:c.748G>A ENSP00000434755.1:p.Val250Ile
NM_000525.3:c.1009G>A NP_000516.3:p.Val337Ile
NM_001166290.1:c.748G>A NP_001159762.1:p.Val250Ile
XM_006718226.2:c.748G>A XP_006718289.1:p.Val250Ile
XR_930867.1:n.1167G>A
XM_006718226.3:c.748G>A XP_006718289.1:p.Val250Ile
XM_017017680.1:c.748G>A XP_016873169.1:p.Val250Ile
NM_001166290.2:c.748G>A NP_001159762.1:p.Val250Ile
NM_001377296.1:c.748G>A NP_001364225.1:p.Val250Ile
NM_001377297.1:c.748G>A NP_001364226.1:p.Val250Ile
NM_000525.4:c.1009G>A MANE Select NP_000516.3:p.Val337Ile