LDH info

Canonical Allele Identifier: CA276115
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 209061
ClinVar RCV Id: RCV000191006
dbSNP Id: rs797045161

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117548796_117548797del , CM000669.2:g.117548796_117548797del GRCh38
NC_000007.13:g.117188850_117188851del , CM000669.1:g.117188850_117188851del GRCh37
NC_000007.12:g.116976086_116976087del NCBI36
NG_016465.4:g.88013_88014del , LRG_663:g.88013_88014del

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.1365_1366del , LRG_663t1:c.1365_1366del NP_000483.3:p.Val456CysfsTer25
XM_011515751.1:c.1455_1456del XP_011514053.1:p.Val486CysfsTer25
XM_011515752.1:c.1455_1456del XP_011514054.1:p.Val486CysfsTer25
XM_011515753.1:c.1122_1123del XP_011514055.1:p.Val375CysfsTer25
XM_011515754.1:c.1122_1123del XP_011514056.1:p.Val375CysfsTer25
NR_149084.1:n.222-6258_222-6257del
ENST00000003084.10:c.1365_1366del ENSP00000003084.6:p.Val456CysfsTer25
ENST00000426809.5:n.1275_1276del ENSP00000389119.1:p.Val426CysfsTer25