Canonical Allele Identifier: CA913189986

Gene: CFTR

Linked Data

• ClinVar Variation Id: 634908
• ClinVar RCV Id: RCV000785764
• dbSNP Id: rs1562889180

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117530900_117531115del , CM000669.2:g.117530900_117531115del	GRCh38
NC_000007.13:g.117170954_117171169del , CM000669.1:g.117170954_117171169del	GRCh37
NC_000007.12:g.116958190_116958405del	NCBI36
NG_016465.4:g.70117_70332del , LRG_663:g.70117_70332del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.275_489+1del
ENST00000647978.2:c.*172_*386+1del
ENST00000649781.2:c.275_489+1del
ENST00000685018.2:c.275_489+1del
ENST00000687278.2:c.275_489+1del
ENST00000699585.1:c.275_489+1del
ENST00000699596.1:c.275_489+1del
ENST00000699597.1:c.275_489+1del
ENST00000699598.1:c.275_489+1del
ENST00000699599.1:c.275_489+1del
ENST00000699600.1:c.275_489+1del
ENST00000699601.1:c.275_489+1del
ENST00000699602.1:c.275_489+1del
ENST00000699604.1:c.*99_*313+1del
ENST00000699605.1:c.32_246+1del
ENST00000003084.11:c.275_489+1del
ENST00000647978.1:c.*172_*386+1del
ENST00000648260.1:c.275_489+1del
ENST00000649406.1:c.275_489+1del
ENST00000649781.1:c.275_489+1del
ENST00000673785.1:c.32_246+1del
ENST00000003084.10:c.275_489+1del
ENST00000426809.5:c.275_489+1del
NM_000492.3:c.275_489+1del , LRG_663t1:c.275_489+1del
XM_011515751.1:c.365_579+1del
XM_011515752.1:c.365_579+1del
XM_011515753.1:c.32_246+1del
XM_011515754.1:c.32_246+1del
NM_000492.4:c.275_489+1del