LDH info

Canonical Allele Identifier: CA260242
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 35875
ClinVar RCV Id: RCV000029530
dbSNP Id: rs193922520

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627775G>A , CM000669.2:g.117627775G>A GRCh38
NC_000007.13:g.117267829G>A , CM000669.1:g.117267829G>A GRCh37
NC_000007.12:g.117055065G>A NCBI36
NG_016465.4:g.166992G>A , LRG_663:g.166992G>A

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.3717+5G>A , LRG_663t1:c.3717+5G>A NP_000483.3:p.=
XM_011515751.1:c.3807+5G>A XP_011514053.1:p.=
XM_011515752.1:c.3807+5G>A XP_011514054.1:p.=
XM_011515753.1:c.3474+5G>A XP_011514055.1:p.=
XM_011515754.1:c.3474+5G>A XP_011514056.1:p.=
NM_000492.4:c.3717+5G>A VV NP_000483.3:p.=
ENST00000003084.10:c.3717+5G>A ENSP00000003084.6:p.=
ENST00000426809.5:n.3627+5G>A ENSP00000389119.1:p.=
ENST00000468795.1:n.547G>A