LDH info

Canonical Allele Identifier: CA328107
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53568
ClinVar RCV Id: RCV000056371
dbSNP Id: rs397508435

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117603654T>C , CM000669.2:g.117603654T>C GRCh38
NC_000007.13:g.117243708T>C , CM000669.1:g.117243708T>C GRCh37
NC_000007.12:g.117030944T>C NCBI36
NG_016465.4:g.142871T>C , LRG_663:g.142871T>C

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.2780T>C , LRG_663t1:c.2780T>C NP_000483.3:p.Leu927Pro
XM_011515751.1:c.2870T>C XP_011514053.1:p.Leu957Pro
XM_011515752.1:c.2870T>C XP_011514054.1:p.Leu957Pro
XM_011515753.1:c.2537T>C XP_011514055.1:p.Leu846Pro
XM_011515754.1:c.2537T>C XP_011514056.1:p.Leu846Pro
NM_000492.4:c.2780T>C VV NP_000483.3:p.Leu927Pro
ENST00000003084.10:c.2780T>C ENSP00000003084.6:p.Leu927Pro
ENST00000426809.5:n.2690T>C ENSP00000389119.1:p.Leu897Pro