LDH info

Canonical Allele Identifier: CA327239
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53777
ClinVar RCV Id: RCV000046933
dbSNP Id: rs397508587

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627658del , CM000669.2:g.117627658del GRCh38
NC_000007.13:g.117267712del , CM000669.1:g.117267712del GRCh37
NC_000007.12:g.117054948del NCBI36
NG_016465.4:g.166875del , LRG_663:g.166875del

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.3605del , LRG_663t1:c.3605del NP_000483.3:p.Asp1202AlafsTer9
XM_011515751.1:c.3695del XP_011514053.1:p.Asp1232AlafsTer9
XM_011515752.1:c.3695del XP_011514054.1:p.Asp1232AlafsTer9
XM_011515753.1:c.3362del XP_011514055.1:p.Asp1121AlafsTer9
XM_011515754.1:c.3362del XP_011514056.1:p.Asp1121AlafsTer9
ENST00000003084.10:c.3605del ENSP00000003084.6:p.Asp1202AlafsTer9
ENST00000426809.5:n.3515del ENSP00000389119.1:p.Asp1172AlafsTer9
ENST00000468795.1:n.430del