LDH info

Canonical Allele Identifier: CA172350
Gene: KCNJ11 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 158687
ClinVar RCV Id: RCV000146121
dbSNP Id: rs587783674

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17388084G>C , CM000673.2:g.17388084G>C GRCh38
NC_000011.9:g.17409631G>C , CM000673.1:g.17409631G>C GRCh37
NC_000011.8:g.17366207G>C NCBI36
NG_012446.1:g.5576C>G

Transcript Alleles

HGVS Amino-acid change
NM_000525.3:c.8C>G VV NP_000516.3:p.Ser3Cys
NM_001166290.1:c.-16-238C>G VV NP_001159762.1:p.=
XM_006718226.2:c.-16-238C>G XP_006718289.1:p.=
XR_930867.1:n.166C>G
XM_006718226.3:c.-16-238C>G XP_006718289.1:p.=
XM_017017680.1:c.-16-238C>G XP_016873169.1:p.=
NM_001166290.2:c.-16-238C>G VV NP_001159762.1:p.=
NM_001377296.1:c.-75-8C>G VV NP_001364225.1:p.=
NM_001377297.1:c.-16-238C>G VV NP_001364226.1:p.=
ENST00000339994.4:c.8C>G ENSP00000345708.4:p.Ser3Cys
ENST00000526912.1:c.-75-8C>G ENSP00000432729.1:p.=
ENST00000528731.1:c.-16-238C>G ENSP00000434755.1:p.=
ENST00000528992.1:n.33-8C>G