Canonical Allele Identifier: CA913189831

Gene: CFTR

Linked Data

• ClinVar Variation Id: 487386
• ClinVar RCV Id: RCV000576410

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610519_117614713del , CM000669.2:g.117610519_117614713del	GRCh38
NC_000007.13:g.117250573_117254767del , CM000669.1:g.117250573_117254767del	GRCh37
NC_000007.12:g.117037809_117042003del	NCBI36
NG_016465.4:g.149736_153930del , LRG_663:g.149736_153930del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2989_3468del
ENST00000647978.2:c.*2703_*3182del
ENST00000649781.2:c.2806_3285del
ENST00000685018.2:c.2989_3468del
ENST00000687278.2:c.2989_3468del
ENST00000699585.1:c.2989_3468del
ENST00000699598.1:c.2989_3468del
ENST00000699599.1:c.2989_3468del
ENST00000699600.1:c.2989_3468del
ENST00000699601.1:c.*1289_*1843del
ENST00000699602.1:c.2989_3462del
ENST00000699604.1:c.*2813_*3292del
ENST00000699605.1:c.2563_3042del
ENST00000687278.1:c.580_1059del
ENST00000003084.11:c.2989_3468del
ENST00000647720.1:c.639_1118del
ENST00000648260.1:c.1771_2250del
ENST00000649406.1:c.2806_3285del
ENST00000649781.1:c.2806_3285del
ENST00000003084.10:c.2989_3468del
ENST00000426809.5:c.2899_3378del
NM_000492.3:c.2989_3468del , LRG_663t1:c.2989_3468del
XM_011515751.1:c.3079_3558del
XM_011515752.1:c.3079_3558del
XM_011515753.1:c.2746_3225del
XM_011515754.1:c.2746_3225del
NM_000492.4:c.2989_3468del