Canonical Allele Identifier: CA2580076333

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1705877
• ClinVar RCV Id: RCV002284251

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117527502_117531824del , CM000669.2:g.117527502_117531824del	GRCh38
NC_000007.13:g.117167556_117171878del , CM000669.1:g.117167556_117171878del	GRCh37
NC_000007.12:g.116954792_116959114del	NCBI36
NG_016465.4:g.66719_71041del , LRG_663:g.66719_71041del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.274-3397_489+710del
ENST00000647978.2:c.*171-3397_*386+710del
ENST00000649781.2:c.274-3397_489+710del
ENST00000685018.2:c.274-3397_489+710del
ENST00000687278.2:c.274-3397_489+710del
ENST00000699585.1:c.274-3397_489+710del
ENST00000699596.1:c.274-3397_489+710del
ENST00000699597.1:c.274-3397_489+710del
ENST00000699598.1:c.274-3397_489+710del
ENST00000699599.1:c.274-3397_489+710del
ENST00000699600.1:c.274-3397_489+710del
ENST00000699601.1:c.274-3397_489+710del
ENST00000699602.1:c.274-3397_489+710del
ENST00000699604.1:c.*98-3397_*313+710del
ENST00000699605.1:c.31-3397_246+710del
ENST00000003084.11:c.274-3397_489+710del
ENST00000647978.1:c.*171-3397_*386+710del
ENST00000648260.1:c.274-3397_489+710del
ENST00000649406.1:c.274-3397_489+710del
ENST00000649781.1:c.274-3397_489+710del
ENST00000673785.1:c.31-3397_246+710del
ENST00000003084.10:c.274-3397_489+710del
ENST00000426809.5:c.274-3397_489+710del
NM_000492.3:c.274-3397_489+710del , LRG_663t1:c.274-3397_489+710del
XM_011515751.1:c.364-3397_579+710del
XM_011515752.1:c.364-3397_579+710del
XM_011515753.1:c.31-3397_246+710del
XM_011515754.1:c.31-3397_246+710del
NM_000492.4:c.274-3397_489+710del