LDH info

Canonical Allele Identifier: CA254526
Gene: KCNJ11 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8686
dbSNP Id: rs267607196
COSMIC: COSM925463

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387248C>T , CM000673.2:g.17387248C>T GRCh38
NC_000011.9:g.17408795C>T , CM000673.1:g.17408795C>T GRCh37
NC_000011.8:g.17365371C>T NCBI36
NG_012446.1:g.6412G>A

Transcript Alleles

HGVS Amino-acid change
NM_000525.3:c.844G>A VV NP_000516.3:p.Glu282Lys
NM_001166290.1:c.583G>A VV NP_001159762.1:p.Glu195Lys
XM_006718226.2:c.583G>A XP_006718289.1:p.Glu195Lys
XR_930867.1:n.1002G>A
XM_006718226.3:c.583G>A XP_006718289.1:p.Glu195Lys
XM_017017680.1:c.583G>A XP_016873169.1:p.Glu195Lys
ENST00000339994.4:c.844G>A ENSP00000345708.4:p.Glu282Lys
ENST00000528731.1:c.583G>A ENSP00000434755.1:p.Glu195Lys