LDH info

Canonical Allele Identifier: CA215102
Gene: KCNH1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 183415
ClinVar RCV Id: RCV000190319
dbSNP Id: rs730882174

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.210919979C>T , CM000663.2:g.210919979C>T GRCh38
NC_000001.10:g.211093321C>T , CM000663.1:g.211093321C>T GRCh37
NC_000001.9:g.209159944C>T NCBI36
NG_029777.1:g.219137G>A
NG_029777.2:g.219137G>A

Transcript Alleles

HGVS Amino-acid change
NM_002238.3:c.1042G>A VV NP_002229.1:p.Gly348Arg
NM_172362.2:c.1123G>A VV NP_758872.1:p.Gly375Arg
XM_011509514.1:c.-54G>A XP_011507816.1:p.=
XM_017001246.1:c.-54G>A XP_016856735.1:p.=
NM_172362.3:c.1123G>A VV MANE Preferred NP_758872.1:p.Gly375Arg
NM_002238.4:c.1042G>A VV NP_002229.1:p.Gly348Arg
ENST00000271751.8:c.1123G>A ENSP00000271751.4:p.Gly375Arg
ENST00000367007.4:c.1042G>A ENSP00000355974.4:p.Gly348Arg