LDH info

Canonical Allele Identifier: CA326947
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53581
ClinVar RCV Id: RCV000046704
dbSNP Id: rs397508445

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117603733_117603764del , CM000669.2:g.117603733_117603764del GRCh38
NC_000007.13:g.117243787_117243818del , CM000669.1:g.117243787_117243818del GRCh37
NC_000007.12:g.117031023_117031054del NCBI36
NG_016465.4:g.142950_142981del , LRG_663:g.142950_142981del

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.2859_2890del , LRG_663t1:c.2859_2890del NP_000483.3:p.Leu953PhefsTer11
XM_011515751.1:c.2949_2980del XP_011514053.1:p.Leu983PhefsTer11
XM_011515752.1:c.2949_2980del XP_011514054.1:p.Leu983PhefsTer11
XM_011515753.1:c.2616_2647del XP_011514055.1:p.Leu872PhefsTer11
XM_011515754.1:c.2616_2647del XP_011514056.1:p.Leu872PhefsTer11
ENST00000003084.10:c.2859_2890del ENSP00000003084.6:p.Leu953PhefsTer11
ENST00000426809.5:n.2769_2800del ENSP00000389119.1:p.Leu923PhefsTer11