LDH info

Canonical Allele Identifier: CA326371
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53170
dbSNP Id: rs121908774

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117540259del , CM000669.2:g.117540259del GRCh38
NC_000007.13:g.117180313del , CM000669.1:g.117180313del GRCh37
NC_000007.12:g.116967549del NCBI36
NG_016465.4:g.79476del , LRG_663:g.79476del

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.1029del , LRG_663t1:c.1029del NP_000483.3:p.Cys343Ter
XM_011515751.1:c.1119del XP_011514053.1:p.Cys373Ter
XM_011515752.1:c.1119del XP_011514054.1:p.Cys373Ter
XM_011515753.1:c.786del XP_011514055.1:p.Cys262Ter
XM_011515754.1:c.786del XP_011514056.1:p.Cys262Ter
NM_000492.4:c.1029del VV MANE Preferred NP_000483.3:p.Cys343Ter
ENST00000003084.10:c.1029del ENSP00000003084.6:p.Cys343Ter
ENST00000426809.5:n.939del ENSP00000389119.1:p.Cys313Ter