LDH info

Canonical Allele Identifier: CA327280
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53805
dbSNP Id: rs397508604

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117642481T>G , CM000669.2:g.117642481T>G GRCh38
NC_000007.13:g.117282535T>G , CM000669.1:g.117282535T>G GRCh37
NC_000007.12:g.117069771T>G NCBI36
NG_016465.4:g.181698T>G , LRG_663:g.181698T>G

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.3761T>G , LRG_663t1:c.3761T>G NP_000483.3:p.Leu1254Ter
XM_011515751.1:c.3851T>G XP_011514053.1:p.Leu1284Ter
XM_011515752.1:c.3851T>G XP_011514054.1:p.Leu1284Ter
XM_011515753.1:c.3518T>G XP_011514055.1:p.Leu1173Ter
XM_011515754.1:c.3518T>G XP_011514056.1:p.Leu1173Ter
NM_000492.4:c.3761T>G VV MANE Preferred NP_000483.3:p.Leu1254Ter
ENST00000003084.10:c.3761T>G ENSP00000003084.6:p.Leu1254Ter
ENST00000426809.5:n.3671T>G ENSP00000389119.1:p.Leu1224Ter