LDH info

Canonical Allele Identifier: CA006854
Gene: KCNQ1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3141
dbSNP Id: rs120074191

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445448C>T , CM000673.2:g.2445448C>T GRCh38
NC_000011.9:g.2466678C>T , CM000673.1:g.2466678C>T GRCh37
NC_000011.8:g.2423254C>T NCBI36
NG_008935.1:g.5458C>T , LRG_287:g.5458C>T

Transcript Alleles

HGVS Amino-acid change
NM_000218.2:c.350C>T , LRG_287t1:c.350C>T NP_000209.2:p.Pro117Leu
NM_000218.3:c.350C>T VV MANE Preferred NP_000209.2:p.Pro117Leu
ENST00000155840.9:c.350C>T ENSP00000155840.2:p.Pro117Leu
ENST00000345015.4:n.127C>T
ENST00000496887.6:c.89C>T ENSP00000434560.1:p.Pro30Leu