LDH info

Canonical Allele Identifier: CA326920
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53563
ClinVar RCV Id: RCV000046684
dbSNP Id: rs397508431

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117603637_117603638dup , CM000669.2:g.117603637_117603638dup GRCh38
NC_000007.13:g.117243691_117243692dup , CM000669.1:g.117243691_117243692dup GRCh37
NC_000007.12:g.117030927_117030928dup NCBI36
NG_016465.4:g.142854_142855dup , LRG_663:g.142854_142855dup

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.2763_2764dup , LRG_663t1:c.2763_2764dup NP_000483.3:p.Val922GlufsTer2
XM_011515751.1:c.2853_2854dup XP_011514053.1:p.Val952GlufsTer2
XM_011515752.1:c.2853_2854dup XP_011514054.1:p.Val952GlufsTer2
XM_011515753.1:c.2520_2521dup XP_011514055.1:p.Val841GlufsTer2
XM_011515754.1:c.2520_2521dup XP_011514056.1:p.Val841GlufsTer2
ENST00000003084.10:c.2763_2764dup ENSP00000003084.6:p.Val922GlufsTer2
ENST00000426809.5:n.2673_2674dup ENSP00000389119.1:p.Val892GlufsTer2