LDH info

Canonical Allele Identifier: CA327530
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53972
ClinVar RCV Id: RCV000577430
dbSNP Id: rs397508733

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117531114G>A , CM000669.2:g.117531114G>A GRCh38
NC_000007.13:g.117171168G>A , CM000669.1:g.117171168G>A GRCh37
NC_000007.12:g.116958404G>A NCBI36
NG_016465.4:g.70331G>A , LRG_663:g.70331G>A

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.489G>A , LRG_663t1:c.489G>A NP_000483.3:p.Lys163=
XM_011515751.1:c.579G>A XP_011514053.1:p.Lys193=
XM_011515752.1:c.579G>A XP_011514054.1:p.Lys193=
XM_011515753.1:c.246G>A XP_011514055.1:p.Lys82=
XM_011515754.1:c.246G>A XP_011514056.1:p.Lys82=
ENST00000003084.10:c.489G>A ENSP00000003084.6:p.Lys163=
ENST00000426809.5:n.489G>A ENSP00000389119.1:p.Lys163=