Canonical Allele Identifier: CA2580076352

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2158111
• ClinVar RCV Id: RCV003079749

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664687_117664688delinsTT , CM000669.2:g.117664687_117664688delinsTT	GRCh38
NC_000007.13:g.117304741_117304742delinsTT , CM000669.1:g.117304741_117304742delinsTT	GRCh37
NC_000007.12:g.117091977_117091978delinsTT	NCBI36
NG_016465.4:g.203904_203905delinsTT , LRG_663:g.203904_203905delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*173-1_*173delinsTT
ENST00000647978.2:c.*3678-1_*3678delinsTT
ENST00000649781.2:c.3781-1_3781delinsTT
ENST00000685018.2:c.*177-1_*177delinsTT
ENST00000687278.2:c.*617-1_*617delinsTT
ENST00000699585.1:c.*173-1_*173delinsTT
ENST00000699598.1:c.3964-1_3964delinsTT
ENST00000699599.1:c.*177-1_*177delinsTT
ENST00000699600.1:c.*625-1_*625delinsTT
ENST00000699601.1:c.*2339-1_*2339delinsTT
ENST00000699602.1:c.3958-1_3958delinsTT
ENST00000699604.1:c.*3788-1_*3788delinsTT
ENST00000699605.1:c.3538-1_3538delinsTT
ENST00000699606.1:n.2132-1_2132delinsTT
ENST00000685018.1:c.828-1_828delinsTT
ENST00000687278.1:c.1751-1_1751delinsTT
ENST00000689011.1:c.546-1_546delinsTT
ENST00000003084.11:c.3964-1_3964delinsTT
ENST00000647720.1:c.1414-1_1414delinsTT
ENST00000649781.1:c.3781-1_3781delinsTT
ENST00000003084.10:c.3964-1_3964delinsTT
ENST00000426809.5:c.3874-1_3874delinsTT
ENST00000600166.1:c.90-1_90delinsTT
NM_000492.3:c.3964-1_3964delinsTT , LRG_663t1:c.3964-1_3964delinsTT
XM_011515751.1:c.4054-1_4054delinsTT
XM_011515752.1:c.4054-1_4054delinsTT
XM_011515753.1:c.3721-1_3721delinsTT
XM_011515754.1:c.3721-1_3721delinsTT
NM_000492.4:c.3964-1_3964delinsTT