LDH info

Canonical Allele Identifier: CA327288
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 38726
ClinVar RCV Id: RCV000046980

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117642493dup , CM000669.2:g.117642493dup GRCh38
NC_000007.13:g.117282547dup , CM000669.1:g.117282547dup GRCh37
NC_000007.12:g.117069783dup NCBI36
NG_016465.4:g.181710dup , LRG_663:g.181710dup

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.3773dup , LRG_663t1:c.3773dup NP_000483.3:p.Leu1258PhefsTer7
XM_011515751.1:c.3863dup XP_011514053.1:p.Leu1288PhefsTer7
XM_011515752.1:c.3863dup XP_011514054.1:p.Leu1288PhefsTer7
XM_011515753.1:c.3530dup XP_011514055.1:p.Leu1177PhefsTer7
XM_011515754.1:c.3530dup XP_011514056.1:p.Leu1177PhefsTer7
ENST00000003084.10:c.3773dup ENSP00000003084.6:p.Leu1258PhefsTer7
ENST00000426809.5:n.3683dup ENSP00000389119.1:p.Leu1228PhefsTer7