LDH info

Canonical Allele Identifier: CA326852
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53516
ClinVar RCV Id: RCV000046624
dbSNP Id: rs397508400

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117595028_117595038del , CM000669.2:g.117595028_117595038del GRCh38
NC_000007.13:g.117235082_117235092del , CM000669.1:g.117235082_117235092del GRCh37
NC_000007.12:g.117022318_117022328del NCBI36
NG_016465.4:g.134245_134255del , LRG_663:g.134245_134255del

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.2589_2599del , LRG_663t1:c.2589_2599del NP_000483.3:p.Ile864SerfsTer28
XM_011515751.1:c.2679_2689del XP_011514053.1:p.Ile894SerfsTer28
XM_011515752.1:c.2679_2689del XP_011514054.1:p.Ile894SerfsTer28
XM_011515753.1:c.2346_2356del XP_011514055.1:p.Ile783SerfsTer28
XM_011515754.1:c.2346_2356del XP_011514056.1:p.Ile783SerfsTer28
ENST00000003084.10:c.2589_2599del ENSP00000003084.6:p.Ile864SerfsTer28
ENST00000426809.5:n.2499_2509del ENSP00000389119.1:p.Ile834SerfsTer28