LDH info

Canonical Allele Identifier: CA345303
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53204
dbSNP Id: rs397508168

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117504314C>T , CM000669.2:g.117504314C>T GRCh38
NC_000007.13:g.117144368C>T , CM000669.1:g.117144368C>T GRCh37
NC_000007.12:g.116931604C>T NCBI36
NG_016465.4:g.43531C>T , LRG_663:g.43531C>T

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.115C>T , LRG_663t1:c.115C>T NP_000483.3:p.Gln39Ter
XM_011515751.1:c.205C>T XP_011514053.1:p.Gln69Ter
XM_011515752.1:c.205C>T XP_011514054.1:p.Gln69Ter
XM_011515753.1:c.-129C>T XP_011514055.1:p.=
XM_011515754.1:c.-203C>T XP_011514056.1:p.=
NM_000492.4:c.115C>T VV NP_000483.3:p.Gln39Ter
ENST00000003084.10:c.115C>T ENSP00000003084.6:p.Gln39Ter
ENST00000426809.5:n.115C>T ENSP00000389119.1:p.Gln39Ter
ENST00000446805.1:c.-129C>T ENSP00000417012.1:p.=