LDH info

Canonical Allele Identifier: CA10647981
Gene: CDH1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 320291
ClinVar RCV Id: RCV000375550
dbSNP Id: rs13689

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68834619T>C , CM000678.2:g.68834619T>C GRCh38
NC_000016.9:g.68868522T>C , CM000678.1:g.68868522T>C GRCh37
NC_000016.8:g.67426023T>C NCBI36
NG_008021.1:g.102328T>C , LRG_301:g.102328T>C

Transcript Alleles

HGVS Amino-acid change
NM_004360.3:c.*1120T>C , LRG_301t1:c.*1120T>C NP_004351.1:p.=
XM_011523488.1:c.*1120T>C XP_011521790.1:p.=
XM_011523489.1:c.*1120T>C XP_011521791.1:p.=
NM_001317184.1:c.*1120T>C VV NP_001304113.1:p.=
NM_001317185.1:c.*1120T>C VV NP_001304114.1:p.=
NM_001317186.1:c.*1120T>C VV NP_001304115.1:p.=
NM_004360.4:c.*1120T>C VV NP_004351.1:p.=
NM_004360.5:c.*1120T>C VV MANE Preferred NP_004351.1:p.=
NM_001317184.2:c.*1120T>C VV NP_001304113.1:p.=
NM_001317185.2:c.*1120T>C VV NP_001304114.1:p.=
NM_001317186.2:c.*1120T>C VV NP_001304115.1:p.=
ENST00000261769.9:c.*1120T>C ENSP00000261769.4:p.=
ENST00000566612.5:c.*2009T>C ENSP00000454782.1:p.=
ENST00000611625.4:c.*1120T>C ENSP00000481063.1:p.=
ENST00000621016.4:c.*338T>C ENSP00000480664.1:p.=