LDH info

Canonical Allele Identifier: CA326620
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53349
dbSNP Id: rs397508274

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117590376del , CM000669.2:g.117590376del GRCh38
NC_000007.13:g.117230430del , CM000669.1:g.117230430del GRCh37
NC_000007.12:g.117017666del NCBI36
NG_016465.4:g.129593del , LRG_663:g.129593del

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.1703del , LRG_663t1:c.1703del NP_000483.3:p.Leu568CysfsTer4
XM_011515751.1:c.1793del XP_011514053.1:p.Leu598CysfsTer4
XM_011515752.1:c.1793del XP_011514054.1:p.Leu598CysfsTer4
XM_011515753.1:c.1460del XP_011514055.1:p.Leu487CysfsTer4
XM_011515754.1:c.1460del XP_011514056.1:p.Leu487CysfsTer4
ENST00000003084.10:c.1703del ENSP00000003084.6:p.Leu568CysfsTer4
ENST00000426809.5:n.1613del ENSP00000389119.1:p.Leu538CysfsTer4