LDH info

Canonical Allele Identifier: CA007528
Gene: KCNH2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 67444
dbSNP Id: rs141401803

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947711G>A , CM000669.2:g.150947711G>A GRCh38
NC_000007.13:g.150644799G>A , CM000669.1:g.150644799G>A GRCh37
NC_000007.12:g.150275732G>A NCBI36
NG_008916.1:g.35216C>T , LRG_288:g.35216C>T

Transcript Alleles

HGVS Amino-acid change
NM_000238.3:c.2860C>T , LRG_288t1:c.2860C>T NP_000229.1:p.Arg954Cys
NM_172057.2:c.1840C>T , LRG_288t3:c.1840C>T NP_742054.1:p.Arg614Cys
XM_011516185.1:c.2560C>T XP_011514487.1:p.Arg854Cys
XM_011516186.1:c.2693-20C>T XP_011514488.1:p.=
XM_011516185.2:c.2560C>T XP_011514487.1:p.Arg854Cys
XM_011516186.3:c.2693-20C>T XP_011514488.1:p.=
XM_017012195.1:c.2710C>T XP_016867684.1:p.Arg904Cys
XM_017012196.1:c.2683C>T XP_016867685.1:p.Arg895Cys
ENST00000262186.9:c.2860C>T ENSP00000262186.5:p.Arg954Cys
ENST00000330883.8:c.1840C>T ENSP00000328531.4:p.Arg614Cys