LDH info

Canonical Allele Identifier: CA328113
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53715
ClinVar RCV Id: RCV000056381
dbSNP Id: rs397508538

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117611751G>T , CM000669.2:g.117611751G>T GRCh38
NC_000007.13:g.117251805G>T , CM000669.1:g.117251805G>T GRCh37
NC_000007.12:g.117039041G>T NCBI36
NG_016465.4:g.150968G>T , LRG_663:g.150968G>T

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.3310G>T , LRG_663t1:c.3310G>T NP_000483.3:p.Glu1104Ter
XM_011515751.1:c.3400G>T XP_011514053.1:p.Glu1134Ter
XM_011515752.1:c.3400G>T XP_011514054.1:p.Glu1134Ter
XM_011515753.1:c.3067G>T XP_011514055.1:p.Glu1023Ter
XM_011515754.1:c.3067G>T XP_011514056.1:p.Glu1023Ter
NM_000492.4:c.3310G>T VV MANE Preferred NP_000483.3:p.Glu1104Ter
ENST00000003084.10:c.3310G>T ENSP00000003084.6:p.Glu1104Ter
ENST00000426809.5:n.3220G>T ENSP00000389119.1:p.Glu1074Ter
ENST00000468795.1:n.135G>T