LDH info

Canonical Allele Identifier: CA326590
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53326
ClinVar RCV Id: RCV000577016
dbSNP Id: rs397508257

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117587824del , CM000669.2:g.117587824del GRCh38
NC_000007.13:g.117227878del , CM000669.1:g.117227878del GRCh37
NC_000007.12:g.117015114del NCBI36
NG_016465.4:g.127041del , LRG_663:g.127041del

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.1670del , LRG_663t1:c.1670del NP_000483.3:p.Ser557PhefsTer2
XM_011515751.1:c.1760del XP_011514053.1:p.Ser587PhefsTer2
XM_011515752.1:c.1760del XP_011514054.1:p.Ser587PhefsTer2
XM_011515753.1:c.1427del XP_011514055.1:p.Ser476PhefsTer2
XM_011515754.1:c.1427del XP_011514056.1:p.Ser476PhefsTer2
NM_000492.4:c.1670del VV MANE Preferred NP_000483.3:p.Ser557PhefsTer2
ENST00000003084.10:c.1670del ENSP00000003084.6:p.Ser557PhefsTer2
ENST00000426809.5:n.1580del ENSP00000389119.1:p.Ser527PhefsTer2