LDH info

Canonical Allele Identifier: CA340805
Gene: KCNJ11 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8671
ClinVar RCV Id: RCV000009206
dbSNP Id: rs80356621

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387583T>C , CM000673.2:g.17387583T>C GRCh38
NC_000011.9:g.17409130T>C , CM000673.1:g.17409130T>C GRCh37
NC_000011.8:g.17365706T>C NCBI36
NG_012446.1:g.6077A>G

Transcript Alleles

HGVS Amino-acid change
NM_000525.3:c.509A>G VV NP_000516.3:p.Lys170Arg
NM_001166290.1:c.248A>G VV NP_001159762.1:p.Lys83Arg
XM_006718226.2:c.248A>G XP_006718289.1:p.Lys83Arg
XR_930867.1:n.667A>G
XM_006718226.3:c.248A>G XP_006718289.1:p.Lys83Arg
XM_017017680.1:c.248A>G XP_016873169.1:p.Lys83Arg
ENST00000339994.4:c.509A>G ENSP00000345708.4:p.Lys170Arg
ENST00000526912.1:c.248A>G ENSP00000432729.1:p.Lys83Arg
ENST00000528731.1:c.248A>G ENSP00000434755.1:p.Lys83Arg