LDH info

Canonical Allele Identifier: CA254117
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7222
ClinVar RCV Id: RCV000007643
dbSNP Id: rs387906378

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627585_117627588dup , CM000669.2:g.117627585_117627588dup GRCh38
NC_000007.13:g.117267639_117267642dup , CM000669.1:g.117267639_117267642dup GRCh37
NC_000007.12:g.117054875_117054878dup NCBI36
NG_016465.4:g.166802_166805dup , LRG_663:g.166802_166805dup

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.3532_3535dup , LRG_663t1:c.3532_3535dup NP_000483.3:p.Thr1179IlefsTer17
XM_011515751.1:c.3622_3625dup XP_011514053.1:p.Thr1209IlefsTer17
XM_011515752.1:c.3622_3625dup XP_011514054.1:p.Thr1209IlefsTer17
XM_011515753.1:c.3289_3292dup XP_011514055.1:p.Thr1098IlefsTer17
XM_011515754.1:c.3289_3292dup XP_011514056.1:p.Thr1098IlefsTer17
NM_000492.4:c.3532_3535dup VV NP_000483.3:p.Thr1179IlefsTer17
ENST00000003084.10:c.3532_3535dup ENSP00000003084.6:p.Thr1179IlefsTer17
ENST00000426809.5:n.3442_3445dup ENSP00000389119.1:p.Thr1149IlefsTer17
ENST00000468795.1:n.357_360dup