LDH info

Canonical Allele Identifier: CA326877
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53535
ClinVar RCV Id: RCV000576558
dbSNP Id: rs397508413

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117602851G>A , CM000669.2:g.117602851G>A GRCh38
NC_000007.13:g.117242905G>A , CM000669.1:g.117242905G>A GRCh37
NC_000007.12:g.117030141G>A NCBI36
NG_016465.4:g.142068G>A , LRG_663:g.142068G>A

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.2645G>A , LRG_663t1:c.2645G>A NP_000483.3:p.Trp882Ter
XM_011515751.1:c.2735G>A XP_011514053.1:p.Trp912Ter
XM_011515752.1:c.2735G>A XP_011514054.1:p.Trp912Ter
XM_011515753.1:c.2402G>A XP_011514055.1:p.Trp801Ter
XM_011515754.1:c.2402G>A XP_011514056.1:p.Trp801Ter
NM_000492.4:c.2645G>A VV MANE Preferred NP_000483.3:p.Trp882Ter
ENST00000003084.10:c.2645G>A ENSP00000003084.6:p.Trp882Ter
ENST00000426809.5:n.2555G>A ENSP00000389119.1:p.Trp852Ter