Canonical Allele Identifier: CA2697557582

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2749649
• ClinVar RCV Id: RCV003506966

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603785_117603796del , CM000669.2:g.117603785_117603796del	GRCh38
NC_000007.13:g.117243839_117243850del , CM000669.1:g.117243839_117243850del	GRCh37
NC_000007.12:g.117031075_117031086del	NCBI36
NG_016465.4:g.143002_143013del , LRG_663:g.143002_143013del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2908+3_2908+14del
ENST00000647978.2:c.*2622+3_*2622+14del
ENST00000649781.2:c.2725+3_2725+14del
ENST00000685018.2:c.2908+3_2908+14del
ENST00000687278.2:c.2908+3_2908+14del
ENST00000699585.1:c.2908+3_2908+14del
ENST00000699598.1:c.2908+3_2908+14del
ENST00000699599.1:c.2908+3_2908+14del
ENST00000699600.1:c.2908+3_2908+14del
ENST00000699601.1:c.*1208+3_*1208+14del
ENST00000699602.1:c.2908+3_2908+14del
ENST00000699604.1:c.*2732+3_*2732+14del
ENST00000699605.1:c.2482+3_2482+14del
ENST00000687278.1:c.499+3_499+14del
ENST00000003084.11:c.2908+3_2908+14del
ENST00000647720.1:c.558+3_558+14del
ENST00000648260.1:c.1690+3_1690+14del
ENST00000649406.1:c.2725+3_2725+14del
ENST00000649781.1:c.2725+3_2725+14del
ENST00000003084.10:c.2908+3_2908+14del
ENST00000426809.5:c.2818+3_2818+14del
NM_000492.3:c.2908+3_2908+14del , LRG_663t1:c.2908+3_2908+14del
XM_011515751.1:c.2998+3_2998+14del
XM_011515752.1:c.2998+3_2998+14del
XM_011515753.1:c.2665+3_2665+14del
XM_011515754.1:c.2665+3_2665+14del
NM_000492.4:c.2908+3_2908+14del