LDH info

Canonical Allele Identifier: CA326903
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53552
ClinVar RCV Id: RCV000046670
dbSNP Id: rs149790377

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117603613T>A , CM000669.2:g.117603613T>A GRCh38
NC_000007.13:g.117243667T>A , CM000669.1:g.117243667T>A GRCh37
NC_000007.12:g.117030903T>A NCBI36
NG_016465.4:g.142830T>A , LRG_663:g.142830T>A

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.2739T>A , LRG_663t1:c.2739T>A NP_000483.3:p.Tyr913Ter
XM_011515751.1:c.2829T>A XP_011514053.1:p.Tyr943Ter
XM_011515752.1:c.2829T>A XP_011514054.1:p.Tyr943Ter
XM_011515753.1:c.2496T>A XP_011514055.1:p.Tyr832Ter
XM_011515754.1:c.2496T>A XP_011514056.1:p.Tyr832Ter
ENST00000003084.10:c.2739T>A ENSP00000003084.6:p.Tyr913Ter
ENST00000426809.5:n.2649T>A ENSP00000389119.1:p.Tyr883Ter