LDH info

Canonical Allele Identifier: CA344709
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 38494
dbSNP Id: rs77188391

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117534366G>T , CM000669.2:g.117534366G>T GRCh38
NC_000007.13:g.117174420G>T , CM000669.1:g.117174420G>T GRCh37
NC_000007.12:g.116961656G>T NCBI36
NG_016465.4:g.73583G>T , LRG_663:g.73583G>T

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.579+1G>T , LRG_663t1:c.579+1G>T NP_000483.3:p.=
XM_011515751.1:c.669+1G>T XP_011514053.1:p.=
XM_011515752.1:c.669+1G>T XP_011514054.1:p.=
XM_011515753.1:c.336+1G>T XP_011514055.1:p.=
XM_011515754.1:c.336+1G>T XP_011514056.1:p.=
NM_000492.4:c.579+1G>T VV NP_000483.3:p.=
ENST00000003084.10:c.579+1G>T ENSP00000003084.6:p.=
ENST00000426809.5:n.490-882G>T ENSP00000389119.1:p.=