LDH info

Canonical Allele Identifier: CA328111
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53690
dbSNP Id: rs139304906

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117611671T>C , CM000669.2:g.117611671T>C GRCh38
NC_000007.13:g.117251725T>C , CM000669.1:g.117251725T>C GRCh37
NC_000007.12:g.117038961T>C NCBI36
NG_016465.4:g.150888T>C , LRG_663:g.150888T>C

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.3230T>C , LRG_663t1:c.3230T>C NP_000483.3:p.Leu1077Pro
XM_011515751.1:c.3320T>C XP_011514053.1:p.Leu1107Pro
XM_011515752.1:c.3320T>C XP_011514054.1:p.Leu1107Pro
XM_011515753.1:c.2987T>C XP_011514055.1:p.Leu996Pro
XM_011515754.1:c.2987T>C XP_011514056.1:p.Leu996Pro
NM_000492.4:c.3230T>C VV MANE Preferred NP_000483.3:p.Leu1077Pro
ENST00000003084.10:c.3230T>C ENSP00000003084.6:p.Leu1077Pro
ENST00000426809.5:n.3140T>C ENSP00000389119.1:p.Leu1047Pro
ENST00000468795.1:n.55T>C