LDH info

Canonical Allele Identifier: CA325590
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7204
dbSNP Id: rs79633941

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117603542C>T , CM000669.2:g.117603542C>T GRCh38
NC_000007.13:g.117243596C>T , CM000669.1:g.117243596C>T GRCh37
NC_000007.12:g.117030832C>T NCBI36
NG_016465.4:g.142759C>T , LRG_663:g.142759C>T

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.2668C>T , LRG_663t1:c.2668C>T NP_000483.3:p.Gln890Ter
XM_011515751.1:c.2758C>T XP_011514053.1:p.Gln920Ter
XM_011515752.1:c.2758C>T XP_011514054.1:p.Gln920Ter
XM_011515753.1:c.2425C>T XP_011514055.1:p.Gln809Ter
XM_011515754.1:c.2425C>T XP_011514056.1:p.Gln809Ter
ENST00000003084.10:c.2668C>T ENSP00000003084.6:p.Gln890Ter
ENST00000426809.5:n.2578C>T ENSP00000389119.1:p.Gln860Ter