Canonical Allele Identifier: CA913189944
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 634911
ClinVar RCV Id: RCV000785767

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117664688_117667108del , CM000669.2:g.117664688_117667108del GRCh38
NC_000007.13:g.117304742_117307162del , CM000669.1:g.117304742_117307162del GRCh37
NC_000007.12:g.117091978_117094398del NCBI36
NG_016465.4:g.203905_206325del , LRG_663:g.203905_206325del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.*173_*652del
ENST00000647978.2:c.*3678_*4157del
ENST00000649781.2:c.3781_4260del
ENST00000685018.2:c.*177_*656del
ENST00000687278.2:c.*617_*896-494del
ENST00000699585.1:c.*173_*912del
ENST00000699598.1:c.3964_*149del
ENST00000699599.1:c.*177_*656del
ENST00000699600.1:c.*625_*904-494del
ENST00000699601.1:c.*2339_*2818del
ENST00000699602.1:c.3958_4437del
ENST00000699604.1:c.*3788_*4267del
ENST00000699605.1:c.3538_4017del
ENST00000699606.1:n.2132_3954del
ENST00000685018.1:c.828_1307del
ENST00000687278.1:c.1751_2030-494del
ENST00000689011.1:c.546_1285del
ENST00000003084.11:c.3964_4443del
ENST00000647720.1:c.1414_1893del
ENST00000649781.1:c.3781_4260del
ENST00000003084.10:c.3964_4443del
ENST00000600166.1:c.90_368+1544del
NM_000492.3:c.3964_4443del , LRG_663t1:c.3964_4443del
XM_011515751.1:c.4054_4533del
XM_011515753.1:c.3721_4200del
XM_011515754.1:c.3721_4200del
NM_000492.4:c.3964_4443del