LDH info

Canonical Allele Identifier: CA007496
Gene: KCNH2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14441
dbSNP Id: rs121912514

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947729G>A , CM000669.2:g.150947729G>A GRCh38
NC_000007.13:g.150644817G>A , CM000669.1:g.150644817G>A GRCh37
NC_000007.12:g.150275750G>A NCBI36
NG_008916.1:g.35198C>T , LRG_288:g.35198C>T

Transcript Alleles

HGVS Amino-acid change
NM_000238.3:c.2842C>T , LRG_288t1:c.2842C>T NP_000229.1:p.Arg948Cys
NM_172057.2:c.1822C>T , LRG_288t3:c.1822C>T NP_742054.1:p.Arg608Cys
XM_011516185.1:c.2542C>T XP_011514487.1:p.Arg848Cys
XM_011516186.1:c.2693-38C>T XP_011514488.1:p.=
XM_011516185.2:c.2542C>T XP_011514487.1:p.Arg848Cys
XM_011516186.3:c.2693-38C>T XP_011514488.1:p.=
XM_017012195.1:c.2692C>T XP_016867684.1:p.Arg898Cys
XM_017012196.1:c.2665C>T XP_016867685.1:p.Arg889Cys
NM_000238.4:c.2842C>T VV MANE Preferred NP_000229.1:p.Arg948Cys
ENST00000262186.9:c.2842C>T ENSP00000262186.5:p.Arg948Cys
ENST00000330883.8:c.1822C>T ENSP00000328531.4:p.Arg608Cys