Canonical Allele Identifier: CA326999

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53616
• ClinVar RCV Id: RCV000785760
• dbSNP Id: rs1562914028
• MyVariant Identifiers: chr7:g.117250573_117250723del (hg19) ; chr7:g.117610519_117610669del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610519_117610669del , CM000669.2:g.117610519_117610669del	GRCh38
NC_000007.13:g.117250573_117250723del , CM000669.1:g.117250573_117250723del	GRCh37
NC_000007.12:g.117037809_117037959del	NCBI36
NG_016465.4:g.149736_149886del , LRG_663:g.149736_149886del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2989_3139del
ENST00000647978.2:c.*2703_*2853del
ENST00000649781.2:c.2806_2956del
ENST00000685018.2:c.2989_3139del
ENST00000687278.2:c.2989_3139del
ENST00000699585.1:c.2989_3139del
ENST00000699598.1:c.2989_3139del
ENST00000699599.1:c.2989_3139del
ENST00000699600.1:c.2989_3139del
ENST00000699601.1:c.*1289_*1439del
ENST00000699602.1:c.2989_3139del
ENST00000699604.1:c.*2813_*2963del
ENST00000699605.1:c.2563_2713del
ENST00000687278.1:c.580_730del
ENST00000003084.11:c.2989_3139del
ENST00000647720.1:c.639_789del
ENST00000648260.1:c.1771_1921del
ENST00000649406.1:c.2806_2956del
ENST00000649781.1:c.2806_2956del
ENST00000003084.10:c.2989_3139del
ENST00000426809.5:c.2899_3049del
NM_000492.3:c.2989_3139del , LRG_663t1:c.2989_3139del
XM_011515751.1:c.3079_3229del
XM_011515752.1:c.3079_3229del
XM_011515753.1:c.2746_2896del
XM_011515754.1:c.2746_2896del
NM_000492.4:c.2989_3139del