LDH info

Canonical Allele Identifier: CA328121
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53883
dbSNP Id: rs397508668

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117664801_117664804delinsAA , CM000669.2:g.117664801_117664804delinsAA GRCh38
NC_000007.13:g.117304855_117304858delinsAA , CM000669.1:g.117304855_117304858delinsAA GRCh37
NC_000007.12:g.117092091_117092094delinsAA NCBI36
NG_016465.4:g.204018_204021delinsAA , LRG_663:g.204018_204021delinsAA

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.4077_4080delinsAA , LRG_663t1:c.4077_4080delinsAA NP_000483.3:p.Val1360ThrfsTer3
XM_011515751.1:c.4167_4170delinsAA XP_011514053.1:p.Val1390ThrfsTer3
XM_011515752.1:c.4167_4170delinsAA XP_011514054.1:p.Val1390ThrfsTer3
XM_011515753.1:c.3834_3837delinsAA XP_011514055.1:p.Val1279ThrfsTer3
XM_011515754.1:c.3834_3837delinsAA XP_011514056.1:p.Val1279ThrfsTer3
NM_000492.4:c.4077_4080delinsAA VV MANE Preferred NP_000483.3:p.Val1360ThrfsTer3
ENST00000003084.10:c.4077_4080delinsAA ENSP00000003084.6:p.Val1360ThrfsTer3
ENST00000426809.5:n.3987_3990delinsAA ENSP00000389119.1:p.Val1330ThrfsTer3
ENST00000600166.1:n.203_206delinsAA