LDH info

Canonical Allele Identifier: CA276941
Gene: KCNJ11 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 211230
dbSNP Id: rs780957825

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387211G>A , CM000673.2:g.17387211G>A GRCh38
NC_000011.9:g.17408758G>A , CM000673.1:g.17408758G>A GRCh37
NC_000011.8:g.17365334G>A NCBI36
NG_012446.1:g.6449C>T

Transcript Alleles

HGVS Amino-acid change
NM_000525.3:c.881C>T VV NP_000516.3:p.Thr294Met
NM_001166290.1:c.620C>T VV NP_001159762.1:p.Thr207Met
XM_006718226.2:c.620C>T XP_006718289.1:p.Thr207Met
XR_930867.1:n.1039C>T
XM_006718226.3:c.620C>T XP_006718289.1:p.Thr207Met
XM_017017680.1:c.620C>T XP_016873169.1:p.Thr207Met
ENST00000339994.4:c.881C>T ENSP00000345708.4:p.Thr294Met
ENST00000528731.1:c.620C>T ENSP00000434755.1:p.Thr207Met