Canonical Allele Identifier: CA913190213
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 690360
ClinVar RCV Id: RCV000851288

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117604867_117612068del , CM000669.2:g.117604867_117612068del GRCh38
NC_000007.13:g.117244921_117252122del , CM000669.1:g.117244921_117252122del GRCh37
NC_000007.12:g.117032157_117039358del NCBI36
NG_016465.4:g.144084_151285del , LRG_663:g.144084_151285del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.2908+1085_3367+260del
ENST00000647978.2:c.*2622+1085_*3081+260del
ENST00000649781.2:c.2725+1085_3184+260del
ENST00000685018.2:c.2908+1085_3367+260del
ENST00000687278.2:c.2908+1085_3367+260del
ENST00000699585.1:c.2908+1085_3367+260del
ENST00000699598.1:c.2908+1085_3367+260del
ENST00000699599.1:c.2908+1085_3367+260del
ENST00000699600.1:c.2908+1085_3367+260del
ENST00000699601.1:c.*1208+1085_*1667+260del
ENST00000699602.1:c.2908+1085_3367+260del
ENST00000699604.1:c.*2732+1085_*3191+260del
ENST00000699605.1:c.2482+1085_2941+260del
ENST00000687278.1:c.499+1085_958+260del
ENST00000003084.11:c.2908+1085_3367+260del
ENST00000647720.1:c.558+1085_1017+260del
ENST00000648260.1:c.1690+1085_2149+260del
ENST00000649406.1:c.2725+1085_3184+260del
ENST00000649781.1:c.2725+1085_3184+260del
ENST00000003084.10:c.2908+1085_3367+260del
ENST00000426809.5:c.2818+1085_3277+260del
NM_000492.3:c.2908+1085_3367+260del , LRG_663t1:c.2908+1085_3367+260del
XM_011515751.1:c.2998+1085_3457+260del
XM_011515752.1:c.2998+1085_3457+260del
XM_011515753.1:c.2665+1085_3124+260del
XM_011515754.1:c.2665+1085_3124+260del
NM_000492.4:c.2908+1085_3367+260del