Canonical Allele Identifier: CA915945441

Gene: CFTR

Linked Data

• ClinVar Variation Id: 818156
• ClinVar RCV Id: RCV001009525

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117624642_117629920del , CM000669.2:g.117624642_117629920del	GRCh38
NC_000007.13:g.117264696_117269974del , CM000669.1:g.117264696_117269974del	GRCh37
NC_000007.12:g.117051932_117057210del	NCBI36
NG_016465.4:g.163859_169137del , LRG_663:g.163859_169137del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3469-2880_3517+2350del
ENST00000647978.2:c.*3183-2880_*3431+2150del
ENST00000649781.2:c.3286-2880_3534+2150del
ENST00000685018.2:c.3469-2880_3717+2150del
ENST00000687278.2:c.3469-1362_*370+2150del
ENST00000699585.1:c.3469-2880_3517+2350del
ENST00000699598.1:c.3469-2880_3717+2150del
ENST00000699599.1:c.3469-2880_3717+2150del
ENST00000699600.1:c.3469-1362_*378+2150del
ENST00000699601.1:c.*1844-2880_*2092+2150del
ENST00000699602.1:c.3463-2880_3711+2150del
ENST00000699604.1:c.*3293-2880_*3541+2150del
ENST00000699605.1:c.3043-2880_3291+2150del
ENST00000685018.1:c.217-2880_465+2150del
ENST00000687278.1:c.1060-1362_1504+2150del
ENST00000689011.1:c.51-2880_299+2150del
ENST00000003084.11:c.3469-2880_3717+2150del
ENST00000647720.1:c.1119-2880_1167+2350del
ENST00000649781.1:c.3286-2880_3534+2150del
ENST00000003084.10:c.3469-2880_3717+2150del
ENST00000426809.5:c.3379-2880_3627+2150del
NM_000492.3:c.3469-2880_3717+2150del , LRG_663t1:c.3469-2880_3717+2150del
XM_011515751.1:c.3559-2880_3807+2150del
XM_011515752.1:c.3559-2880_3807+2150del
XM_011515753.1:c.3226-2880_3474+2150del
XM_011515754.1:c.3226-2880_3474+2150del
NM_000492.4:c.3469-2880_3717+2150del