LDH info

Canonical Allele Identifier: CA326575
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53314
dbSNP Id: rs397508249

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117509033G>A , CM000669.2:g.117509033G>A GRCh38
NC_000007.13:g.117149087G>A , CM000669.1:g.117149087G>A GRCh37
NC_000007.12:g.116936323G>A NCBI36
NG_016465.4:g.48250G>A , LRG_663:g.48250G>A

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.165-1G>A , LRG_663t1:c.165-1G>A NP_000483.3:p.=
XM_011515751.1:c.255-1G>A XP_011514053.1:p.=
XM_011515752.1:c.255-1G>A XP_011514054.1:p.=
XM_011515753.1:c.-79-1G>A XP_011514055.1:p.=
XM_011515754.1:c.-79-1G>A XP_011514056.1:p.=
NM_000492.4:c.165-1G>A VV NP_000483.3:p.=
ENST00000003084.10:c.165-1G>A ENSP00000003084.6:p.=
ENST00000426809.5:n.165-1G>A ENSP00000389119.1:p.=
ENST00000446805.1:c.-79-1G>A ENSP00000417012.1:p.=