LDH info

Canonical Allele Identifier: CA328097
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53455
ClinVar RCV Id: RCV000056361
dbSNP Id: rs397508353

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592382del , CM000669.2:g.117592382del GRCh38
NC_000007.13:g.117232436del , CM000669.1:g.117232436del GRCh37
NC_000007.12:g.117019672del NCBI36
NG_016465.4:g.131599del , LRG_663:g.131599del

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.2215del , LRG_663t1:c.2215del NP_000483.3:p.Val739TyrfsTer16
XM_011515751.1:c.2305del XP_011514053.1:p.Val769TyrfsTer16
XM_011515752.1:c.2305del XP_011514054.1:p.Val769TyrfsTer16
XM_011515753.1:c.1972del XP_011514055.1:p.Val658TyrfsTer16
XM_011515754.1:c.1972del XP_011514056.1:p.Val658TyrfsTer16
NM_000492.4:c.2215del VV MANE Preferred NP_000483.3:p.Val739TyrfsTer16
ENST00000003084.10:c.2215del ENSP00000003084.6:p.Val739TyrfsTer16
ENST00000426809.5:n.2125del ENSP00000389119.1:p.Val709TyrfsTer16