LDH info

Canonical Allele Identifier: CA341724
Gene: KCNJ11 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 21199
ClinVar RCV Id: RCV000020355
dbSNP Id: rs80356624

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387490C>A , CM000673.2:g.17387490C>A GRCh38
NC_000011.9:g.17409037C>A , CM000673.1:g.17409037C>A GRCh37
NC_000011.8:g.17365613C>A NCBI36
NG_012446.1:g.6170G>T

Transcript Alleles

HGVS Amino-acid change
NM_000525.3:c.602G>T VV NP_000516.3:p.Arg201Leu
NM_001166290.1:c.341G>T VV NP_001159762.1:p.Arg114Leu
XM_006718226.2:c.341G>T XP_006718289.1:p.Arg114Leu
XR_930867.1:n.760G>T
XM_006718226.3:c.341G>T XP_006718289.1:p.Arg114Leu
XM_017017680.1:c.341G>T XP_016873169.1:p.Arg114Leu
NM_001166290.2:c.341G>T VV NP_001159762.1:p.Arg114Leu
NM_001377296.1:c.341G>T VV NP_001364225.1:p.Arg114Leu
NM_001377297.1:c.341G>T VV NP_001364226.1:p.Arg114Leu
ENST00000339994.4:c.602G>T ENSP00000345708.4:p.Arg201Leu
ENST00000526912.1:c.341G>T ENSP00000432729.1:p.Arg114Leu
ENST00000528731.1:c.341G>T ENSP00000434755.1:p.Arg114Leu