Canonical Allele Identifier: CA16041131
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371444
ClinVar RCV Id: RCV000410112
dbSNP Id: rs1057517276

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592650dup , CM000669.2:g.117592650dup GRCh38
NC_000007.13:g.117232704dup , CM000669.1:g.117232704dup GRCh37
NC_000007.12:g.117019940dup NCBI36
NG_016465.4:g.131867dup , LRG_663:g.131867dup

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.2483dup , LRG_663t1:c.2483dup NP_000483.3:p.Asp828GlufsTer8
XM_011515751.1:c.2573dup XP_011514053.1:p.Asp858GlufsTer8
XM_011515752.1:c.2573dup XP_011514054.1:p.Asp858GlufsTer8
XM_011515753.1:c.2240dup XP_011514055.1:p.Asp747GlufsTer8
XM_011515754.1:c.2240dup XP_011514056.1:p.Asp747GlufsTer8
ENST00000003084.10:c.2483dup ENSP00000003084.6:p.Asp828GlufsTer8
ENST00000426809.5:n.2393dup ENSP00000389119.1:p.Asp798GlufsTer8