LDH info

Canonical Allele Identifier: CA327058
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53660
ClinVar RCV Id: RCV000046791
dbSNP Id: rs397508505

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117610669_117610670del , CM000669.2:g.117610669_117610670del GRCh38
NC_000007.13:g.117250723_117250724del , CM000669.1:g.117250723_117250724del GRCh37
NC_000007.12:g.117037959_117037960del NCBI36
NG_016465.4:g.149886_149887del , LRG_663:g.149886_149887del

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.3139_3139+1del , LRG_663t1:c.3139_3139+1del
XM_011515751.1:c.3229_3229+1del
XM_011515752.1:c.3229_3229+1del
XM_011515753.1:c.2896_2896+1del
XM_011515754.1:c.2896_2896+1del
ENST00000003084.10:c.3139_3139+1del
ENST00000426809.5:n.3049_3049+1del