Canonical Allele Identifier: CA2580617096

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2506206
• ClinVar RCV Id: RCV003236437

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117531157_117534894del , CM000669.2:g.117531157_117534894del	GRCh38
NC_000007.13:g.117171211_117174948del , CM000669.1:g.117171211_117174948del	GRCh37
NC_000007.12:g.116958447_116962184del	NCBI36
NG_016465.4:g.70374_74111del , LRG_663:g.70374_74111del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.489+43_580-354del
ENST00000647978.2:c.*386+43_*477-354del
ENST00000649781.2:c.489+43_580-354del
ENST00000685018.2:c.489+43_580-354del
ENST00000687278.2:c.489+43_580-354del
ENST00000699585.1:c.489+43_580-354del
ENST00000699596.1:c.489+43_580-354del
ENST00000699597.1:c.489+43_580-354del
ENST00000699598.1:c.489+43_580-354del
ENST00000699599.1:c.489+43_580-354del
ENST00000699600.1:c.489+43_580-354del
ENST00000699601.1:c.489+43_580-354del
ENST00000699602.1:c.489+43_580-354del
ENST00000699604.1:c.*313+43_*404-354del
ENST00000699605.1:c.246+43_337-354del
ENST00000003084.11:c.489+43_580-354del
ENST00000647978.1:c.*386+43_*477-354del
ENST00000648260.1:c.489+43_580-354del
ENST00000649406.1:c.489+43_580-354del
ENST00000649781.1:c.489+43_580-354del
ENST00000673785.1:c.246+43_337-354del
ENST00000003084.10:c.489+43_580-354del
ENST00000426809.5:c.489+43_490-354del	ENSP00000389119.1:n.489+43_490-354del
NM_000492.3:c.489+43_580-354del , LRG_663t1:c.489+43_580-354del
XM_011515751.1:c.579+43_670-354del
XM_011515752.1:c.579+43_670-354del
XM_011515753.1:c.246+43_337-354del
XM_011515754.1:c.246+43_337-354del
NM_000492.4:c.489+43_580-354del