LDH info

Canonical Allele Identifier: CA326991
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53610
ClinVar RCV Id: RCV000577122
dbSNP Id: rs397508467

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117530921C>T , CM000669.2:g.117530921C>T GRCh38
NC_000007.13:g.117170975C>T , CM000669.1:g.117170975C>T GRCh37
NC_000007.12:g.116958211C>T NCBI36
NG_016465.4:g.70138C>T , LRG_663:g.70138C>T

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.296C>T , LRG_663t1:c.296C>T NP_000483.3:p.Pro99Leu
XM_011515751.1:c.386C>T XP_011514053.1:p.Pro129Leu
XM_011515752.1:c.386C>T XP_011514054.1:p.Pro129Leu
XM_011515753.1:c.53C>T XP_011514055.1:p.Pro18Leu
XM_011515754.1:c.53C>T XP_011514056.1:p.Pro18Leu
ENST00000003084.10:c.296C>T ENSP00000003084.6:p.Pro99Leu
ENST00000426809.5:n.296C>T ENSP00000389119.1:p.Pro99Leu
ENST00000446805.1:c.53C>T ENSP00000417012.1:p.Pro18Leu