Canonical Allele Identifier: CA913190196

Gene: CFTR

Linked Data

• ClinVar Variation Id: 634907
• ClinVar RCV Id: RCV000785763
• dbSNP Id: rs1562908889

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117594931_117595059del , CM000669.2:g.117594931_117595059del	GRCh38
NC_000007.13:g.117234985_117235113del , CM000669.1:g.117234985_117235113del	GRCh37
NC_000007.12:g.117022221_117022349del	NCBI36
NG_016465.4:g.134148_134276del , LRG_663:g.134148_134276del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2492_2619+1del
ENST00000647978.2:c.*2206_*2333+1del
ENST00000649781.2:c.2309_2436+1del
ENST00000685018.2:c.2492_2619+1del
ENST00000687278.2:c.2492_2619+1del
ENST00000699585.1:c.2492_2619+1del
ENST00000699598.1:c.2492_2619+1del
ENST00000699599.1:c.2492_2619+1del
ENST00000699600.1:c.2492_2619+1del
ENST00000699601.1:c.*792_*919+1del
ENST00000699602.1:c.2492_2619+1del
ENST00000699604.1:c.*2316_*2443+1del
ENST00000699605.1:c.2066_2193+1del
ENST00000687278.1:c.83_210+1del
ENST00000003084.11:c.2492_2619+1del
ENST00000647720.1:c.142_269+1del
ENST00000648260.1:c.1402-7895_1402-7767del	ENSP00000497957.1:n.1402-7895_1402-7767de...
ENST00000649406.1:c.2309_2436+1del
ENST00000649781.1:c.2309_2436+1del
ENST00000003084.10:c.2492_2619+1del
ENST00000426809.5:c.2402_2529+1del
NM_000492.3:c.2492_2619+1del , LRG_663t1:c.2492_2619+1del
XM_011515751.1:c.2582_2709+1del
XM_011515752.1:c.2582_2709+1del
XM_011515753.1:c.2249_2376+1del
XM_011515754.1:c.2249_2376+1del
NM_000492.4:c.2492_2619+1del