LDH info

Canonical Allele Identifier: CA327183
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53741
ClinVar RCV Id: RCV000576362
dbSNP Id: rs397508561

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117614680G>A , CM000669.2:g.117614680G>A GRCh38
NC_000007.13:g.117254734G>A , CM000669.1:g.117254734G>A GRCh37
NC_000007.12:g.117041970G>A NCBI36
NG_016465.4:g.153897G>A , LRG_663:g.153897G>A

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.3435G>A , LRG_663t1:c.3435G>A NP_000483.3:p.Trp1145Ter
XM_011515751.1:c.3525G>A XP_011514053.1:p.Trp1175Ter
XM_011515752.1:c.3525G>A XP_011514054.1:p.Trp1175Ter
XM_011515753.1:c.3192G>A XP_011514055.1:p.Trp1064Ter
XM_011515754.1:c.3192G>A XP_011514056.1:p.Trp1064Ter
ENST00000003084.10:c.3435G>A ENSP00000003084.6:p.Trp1145Ter
ENST00000426809.5:n.3345G>A ENSP00000389119.1:p.Trp1115Ter
ENST00000468795.1:n.260G>A