LDH info

Canonical Allele Identifier: CA325712
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 35890
ClinVar RCV Id: RCV000029545
dbSNP Id: rs193922532

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117536629C>G , CM000669.2:g.117536629C>G GRCh38
NC_000007.13:g.117176683C>G , CM000669.1:g.117176683C>G GRCh37
NC_000007.12:g.116963919C>G NCBI36
NG_016465.4:g.75846C>G , LRG_663:g.75846C>G

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.825C>G , LRG_663t1:c.825C>G NP_000483.3:p.Tyr275Ter
XM_011515751.1:c.915C>G XP_011514053.1:p.Tyr305Ter
XM_011515752.1:c.915C>G XP_011514054.1:p.Tyr305Ter
XM_011515753.1:c.582C>G XP_011514055.1:p.Tyr194Ter
XM_011515754.1:c.582C>G XP_011514056.1:p.Tyr194Ter
NM_000492.4:c.825C>G VV NP_000483.3:p.Tyr275Ter
ENST00000003084.10:c.825C>G ENSP00000003084.6:p.Tyr275Ter
ENST00000426809.5:n.735C>G ENSP00000389119.1:p.Tyr245Ter