LDH info

Canonical Allele Identifier: CA008759
Gene: KCNQ1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3116
dbSNP Id: rs120074182

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583448C>T , CM000673.2:g.2583448C>T GRCh38
NC_000011.9:g.2604678C>T , CM000673.1:g.2604678C>T GRCh37
NC_000011.8:g.2561254C>T NCBI36
NG_008935.1:g.143458C>T , LRG_287:g.143458C>T

Transcript Alleles

HGVS Amino-acid change
NM_000218.2:c.935C>T , LRG_287t1:c.935C>T NP_000209.2:p.Thr312Ile
NM_181798.1:c.554C>T , LRG_287t2:c.554C>T NP_861463.1:p.Thr185Ile
NM_000218.3:c.935C>T VV MANE Preferred NP_000209.2:p.Thr312Ile
ENST00000155840.9:c.935C>T ENSP00000155840.2:p.Thr312Ile
ENST00000335475.5:c.554C>T ENSP00000334497.5:p.Thr185Ile