LDH info

Canonical Allele Identifier: CA326861
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 487396
ClinVar RCV Id: RCV000046631
dbSNP Id: rs397508405

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117595040dup , CM000669.2:g.117595040dup GRCh38
NC_000007.13:g.117235094dup , CM000669.1:g.117235094dup GRCh37
NC_000007.12:g.117022330dup NCBI36
NG_016465.4:g.134257dup , LRG_663:g.134257dup

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.2601dup , LRG_663t1:c.2601dup NP_000483.3:p.Val868SerfsTer28
XM_011515751.1:c.2691dup XP_011514053.1:p.Val898SerfsTer28
XM_011515752.1:c.2691dup XP_011514054.1:p.Val898SerfsTer28
XM_011515753.1:c.2358dup XP_011514055.1:p.Val787SerfsTer28
XM_011515754.1:c.2358dup XP_011514056.1:p.Val787SerfsTer28
ENST00000003084.10:c.2601dup ENSP00000003084.6:p.Val868SerfsTer28
ENST00000426809.5:n.2511dup ENSP00000389119.1:p.Val838SerfsTer28