LDH info

Canonical Allele Identifier: CA221019
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 35857
dbSNP Id: rs121908797

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117606753G>A , CM000669.2:g.117606753G>A GRCh38
NC_000007.13:g.117246807G>A , CM000669.1:g.117246807G>A GRCh37
NC_000007.12:g.117034043G>A NCBI36
NG_016465.4:g.145970G>A , LRG_663:g.145970G>A

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.2988G>A , LRG_663t1:c.2988G>A NP_000483.3:p.Gln996=
XM_011515751.1:c.3078G>A XP_011514053.1:p.Gln1026=
XM_011515752.1:c.3078G>A XP_011514054.1:p.Gln1026=
XM_011515753.1:c.2745G>A XP_011514055.1:p.Gln915=
XM_011515754.1:c.2745G>A XP_011514056.1:p.Gln915=
NM_000492.4:c.2988G>A VV MANE Preferred NP_000483.3:p.Gln996=
ENST00000003084.10:c.2988G>A ENSP00000003084.6:p.Gln996=
ENST00000426809.5:n.2898G>A ENSP00000389119.1:p.Gln966=