Canonical Allele Identifier: CA2580076362

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1705871
• ClinVar RCV Id: RCV002284245

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117535281_117538553del , CM000669.2:g.117535281_117538553del	GRCh38
NC_000007.13:g.117175335_117178607del , CM000669.1:g.117175335_117178607del	GRCh37
NC_000007.12:g.116962571_116965843del	NCBI36
NG_016465.4:g.74498_77770del , LRG_663:g.74498_77770del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.613_870-1547del
ENST00000647978.2:c.*510_*767-1547del
ENST00000649781.2:c.613_870-1547del
ENST00000685018.2:c.613_870-1547del
ENST00000687278.2:c.613_870-1547del
ENST00000699585.1:c.613_870-1547del
ENST00000699596.1:c.613_870-1547del
ENST00000699597.1:c.613_870-1547del
ENST00000699598.1:c.613_870-1547del
ENST00000699599.1:c.613_870-1547del
ENST00000699600.1:c.613_870-1547del
ENST00000699601.1:c.613_870-1547del
ENST00000699602.1:c.613_870-1547del
ENST00000699604.1:c.*437_*694-1547del
ENST00000699605.1:c.370_627-1547del
ENST00000003084.11:c.613_870-1547del
ENST00000647978.1:c.*510_*767-1547del
ENST00000648260.1:c.613_870-1547del
ENST00000649406.1:c.613_870-1547del
ENST00000649781.1:c.613_870-1547del
ENST00000673785.1:c.370_627-1547del
ENST00000003084.10:c.613_870-1547del
ENST00000426809.5:c.523_780-1547del
NM_000492.3:c.613_870-1547del , LRG_663t1:c.613_870-1547del
XM_011515751.1:c.703_960-1547del
XM_011515752.1:c.703_960-1547del
XM_011515753.1:c.370_627-1547del
XM_011515754.1:c.370_627-1547del
NM_000492.4:c.613_870-1547del