Canonical Allele Identifier: CA254520
Gene: KCNJ11 HGNC NCBI

Linked Data

ClinVar Variation Id: 8675
ClinVar RCV Id: RCV000009210
dbSNP Id: rs104894237

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387331G>A , CM000673.2:g.17387331G>A GRCh38
NC_000011.9:g.17408878G>A , CM000673.1:g.17408878G>A GRCh37
NC_000011.8:g.17365454G>A NCBI36
NG_012446.1:g.6329C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000339994.5:c.761C>T MANE Select ENSP00000345708.4:p.Pro254Leu
ENST00000339994.4:c.761C>T ENSP00000345708.4:p.Pro254Leu
ENST00000528731.1:c.500C>T ENSP00000434755.1:p.Pro167Leu
NM_000525.3:c.761C>T NP_000516.3:p.Pro254Leu
NM_001166290.1:c.500C>T NP_001159762.1:p.Pro167Leu
XM_006718226.2:c.500C>T XP_006718289.1:p.Pro167Leu
XR_930867.1:n.919C>T
XM_006718226.3:c.500C>T XP_006718289.1:p.Pro167Leu
XM_017017680.1:c.500C>T XP_016873169.1:p.Pro167Leu
NM_001166290.2:c.500C>T NP_001159762.1:p.Pro167Leu
NM_001377296.1:c.500C>T NP_001364225.1:p.Pro167Leu
NM_001377297.1:c.500C>T NP_001364226.1:p.Pro167Leu
NM_000525.4:c.761C>T MANE Select NP_000516.3:p.Pro254Leu