LDH info

Canonical Allele Identifier: CA006462
Gene: KCNH2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14433
dbSNP Id: rs12720441

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950216G>A , CM000669.2:g.150950216G>A GRCh38
NC_000007.13:g.150647304G>A , CM000669.1:g.150647304G>A GRCh37
NC_000007.12:g.150278237G>A NCBI36
NG_008916.1:g.32711C>T , LRG_288:g.32711C>T

Transcript Alleles

HGVS Amino-acid change
NM_000238.3:c.2350C>T , LRG_288t1:c.2350C>T NP_000229.1:p.Arg784Trp
NM_001204798.1:c.1330C>T VV NP_001191727.1:p.Arg444Trp
NM_172056.2:c.2350C>T , LRG_288t2:c.2350C>T NP_742053.1:p.Arg784Trp
NM_172057.2:c.1330C>T , LRG_288t3:c.1330C>T NP_742054.1:p.Arg444Trp
XM_011516185.1:c.2050C>T XP_011514487.1:p.Arg684Trp
XM_011516186.1:c.2350C>T XP_011514488.1:p.Arg784Trp
XM_011516185.2:c.2050C>T XP_011514487.1:p.Arg684Trp
XM_011516186.3:c.2350C>T XP_011514488.1:p.Arg784Trp
XM_017012195.1:c.2200C>T XP_016867684.1:p.Arg734Trp
XM_017012196.1:c.2173C>T XP_016867685.1:p.Arg725Trp
NM_000238.4:c.2350C>T VV MANE Preferred NP_000229.1:p.Arg784Trp
NM_001204798.2:c.1330C>T VV NP_001191727.1:p.Arg444Trp
ENST00000262186.9:c.2350C>T ENSP00000262186.5:p.Arg784Trp
ENST00000330883.8:c.1330C>T ENSP00000328531.4:p.Arg444Trp
ENST00000430723.4:c.2002C>T ENSP00000387657.4:p.Arg668Trp
ENST00000461280.1:n.1637C>T
ENST00000473610.5:n.1982C>T
ENST00000532957.5:n.2573C>T