Canonical Allele Identifier: CA913189945
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 634917
ClinVar RCV Id: RCV000785773
dbSNP Id: rs1562928854

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117664690_117665566del , CM000669.2:g.117664690_117665566del GRCh38
NC_000007.13:g.117304744_117305620del , CM000669.1:g.117304744_117305620del GRCh37
NC_000007.12:g.117091980_117092856del NCBI36
NG_016465.4:g.203907_204783del , LRG_663:g.203907_204783del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.*175_*451+2del
ENST00000647978.2:c.*3680_*3956+2del
ENST00000649781.2:c.3783_4059+2del
ENST00000685018.2:c.*179_*455+2del
ENST00000687278.2:c.*619_*895+2del
ENST00000699585.1:c.*175_*451+2del
ENST00000699598.1:c.3966_4242+2del
ENST00000699599.1:c.*179_*455+2del
ENST00000699600.1:c.*627_*903+2del
ENST00000699601.1:c.*2341_*2617+2del
ENST00000699602.1:c.3960_4236+2del
ENST00000699604.1:c.*3790_*4066+2del
ENST00000699605.1:c.3540_3816+2del
ENST00000699606.1:n.2134_2412del
ENST00000685018.1:c.830_1106+2del
ENST00000687278.1:c.1753_2029+2del
ENST00000689011.1:c.548_824+2del
ENST00000003084.11:c.3966_4242+2del
ENST00000647720.1:c.1416_1692+2del
ENST00000649781.1:c.3783_4059+2del
ENST00000003084.10:c.3966_4242+2del
ENST00000426809.5:c.3876_4152+2del
ENST00000600166.1:c.92_368+2del
NM_000492.3:c.3966_4242+2del , LRG_663t1:c.3966_4242+2del
XM_011515751.1:c.4056_4332+2del
XM_011515752.1:c.4056_4332+2del
XM_011515753.1:c.3723_3999+2del
XM_011515754.1:c.3723_3999+2del
NM_000492.4:c.3966_4242+2del