LDH info

Canonical Allele Identifier: CA008331
Gene: KCNQ1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3119
dbSNP Id: rs120074180

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572882C>T , CM000673.2:g.2572882C>T GRCh38
NC_000011.9:g.2594112C>T , CM000673.1:g.2594112C>T GRCh37
NC_000011.8:g.2550688C>T NCBI36
NG_008935.1:g.132892C>T , LRG_287:g.132892C>T

Transcript Alleles

HGVS Amino-acid change
NM_000218.2:c.817C>T , LRG_287t1:c.817C>T NP_000209.2:p.Leu273Phe
NM_181798.1:c.436C>T , LRG_287t2:c.436C>T NP_861463.1:p.Leu146Phe
NM_000218.3:c.817C>T VV MANE Preferred NP_000209.2:p.Leu273Phe
ENST00000155840.9:c.817C>T ENSP00000155840.2:p.Leu273Phe
ENST00000335475.5:c.436C>T ENSP00000334497.5:p.Leu146Phe
ENST00000496887.6:c.556C>T ENSP00000434560.1:p.Leu186Phe