LDH info

Canonical Allele Identifier: CA326567
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53308
ClinVar RCV Id: RCV000577584
dbSNP Id: rs397508244

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117504367dup , CM000669.2:g.117504367dup GRCh38
NC_000007.13:g.117144421dup , CM000669.1:g.117144421dup GRCh37
NC_000007.12:g.116931657dup NCBI36
NG_016465.4:g.43584dup , LRG_663:g.43584dup

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.164+4dup , LRG_663t1:c.164+4dup NP_000483.3:p.=
XM_011515751.1:c.254+4dup XP_011514053.1:p.=
XM_011515752.1:c.254+4dup XP_011514054.1:p.=
XM_011515753.1:c.-80+4dup XP_011514055.1:p.=
XM_011515754.1:c.-154+4dup XP_011514056.1:p.=
ENST00000003084.10:c.164+4dup ENSP00000003084.6:p.=
ENST00000426809.5:n.164+4dup ENSP00000389119.1:p.=
ENST00000446805.1:c.-80+4dup ENSP00000417012.1:p.=