LDH info

Canonical Allele Identifier: CA221029
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53779
dbSNP Id: rs121908765

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627665G>A , CM000669.2:g.117627665G>A GRCh38
NC_000007.13:g.117267719G>A , CM000669.1:g.117267719G>A GRCh37
NC_000007.12:g.117054955G>A NCBI36
NG_016465.4:g.166882G>A , LRG_663:g.166882G>A

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.3612G>A , LRG_663t1:c.3612G>A NP_000483.3:p.Trp1204Ter
XM_011515751.1:c.3702G>A XP_011514053.1:p.Trp1234Ter
XM_011515752.1:c.3702G>A XP_011514054.1:p.Trp1234Ter
XM_011515753.1:c.3369G>A XP_011514055.1:p.Trp1123Ter
XM_011515754.1:c.3369G>A XP_011514056.1:p.Trp1123Ter
ENST00000003084.10:c.3612G>A ENSP00000003084.6:p.Trp1204Ter
ENST00000426809.5:n.3522G>A ENSP00000389119.1:p.Trp1174Ter
ENST00000468795.1:n.437G>A