LDH info

Canonical Allele Identifier: CA327007
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53623
ClinVar RCV Id: RCV000046752
dbSNP Id: rs397508477

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117610532_117610533del , CM000669.2:g.117610532_117610533del GRCh38
NC_000007.13:g.117250586_117250587del , CM000669.1:g.117250586_117250587del GRCh37
NC_000007.12:g.117037822_117037823del NCBI36
NG_016465.4:g.149749_149750del , LRG_663:g.149749_149750del

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.3002_3003del , LRG_663t1:c.3002_3003del NP_000483.3:p.Val1001AspfsTer?
XM_011515751.1:c.3092_3093del XP_011514053.1:p.Val1031AspfsTer?
XM_011515752.1:c.3092_3093del XP_011514054.1:p.Val1031AspfsTer?
XM_011515753.1:c.2759_2760del XP_011514055.1:p.Val920AspfsTer?
XM_011515754.1:c.2759_2760del XP_011514056.1:p.Val920AspfsTer?
ENST00000003084.10:c.3002_3003del ENSP00000003084.6:p.Val1001AspfsTer?
ENST00000426809.5:n.2912_2913del ENSP00000389119.1:p.Val971AspfsTer?