Canonical Allele Identifier: CA1106320306

Gene: CFTR

Linked Data

• dbSNP Id: rs1793343933
• gnomAD v3: 7-117664800-CTGTT-C
• gnomAD v4: 7-117664800-CTGTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664801_117664804del , CM000669.2:g.117664801_117664804del	GRCh38
NC_000007.13:g.117304855_117304858del , CM000669.1:g.117304855_117304858del	GRCh37
NC_000007.12:g.117092091_117092094del	NCBI36
NG_016465.4:g.204018_204021del , LRG_663:g.204018_204021del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*286_*289del	ENSP00000497673.2:n.*286_*289del
ENST00000647978.2:c.*3791_*3794del	ENSP00000497658.1:n.*3791_*3794del
ENST00000649781.2:c.3894_3897del	ENSP00000497203.1:p.Val1299SerfsTer19
ENST00000685018.2:c.*290_*293del	ENSP00000510194.2:n.*290_*293del
ENST00000687278.2:c.*730_*733del	ENSP00000509593.2:n.*730_*733del
ENST00000699585.1:c.*286_*289del	ENSP00000514456.1:n.*286_*289del
ENST00000699598.1:c.4077_4080del	ENSP00000514467.1:p.Val1360SerfsTer19
ENST00000699599.1:c.*290_*293del	ENSP00000514468.1:n.*290_*293del
ENST00000699600.1:c.*738_*741del	ENSP00000514469.1:n.*738_*741del
ENST00000699601.1:c.*2452_*2455del	ENSP00000514470.1:n.*2452_*2455del
ENST00000699602.1:c.4071_4074del	ENSP00000514471.1:p.Val1358SerfsTer19
ENST00000699604.1:c.*3901_*3904del	ENSP00000514472.1:n.*3901_*3904del
ENST00000699605.1:c.3651_3654del	ENSP00000514473.1:p.Val1218SerfsTer19
ENST00000699606.1:n.2245_2248del
ENST00000685018.1:c.941_944del	ENSP00000510194.1:n.941_944del
ENST00000687278.1:c.1864_1867del	ENSP00000509593.1:n.1864_1867del
ENST00000689011.1:c.659_662del
ENST00000003084.11:c.4077_4080del MANE Select	ENSP00000003084.6:p.Val1360SerfsTer19
ENST00000647720.1:c.1527_1530del
ENST00000649781.1:c.3894_3897del	ENSP00000497203.1:p.Val1299SerfsTer19
ENST00000003084.10:c.4077_4080del	ENSP00000003084.6:p.Val1360SerfsTer19
ENST00000426809.5:c.3987_3990del	ENSP00000389119.1:p.Val1330SerfsTer19
ENST00000600166.1:c.203_206del
NM_000492.3:c.4077_4080del , LRG_663t1:c.4077_4080del	NP_000483.3:p.Val1360SerfsTer19
XM_011515751.1:c.4167_4170del	XP_011514053.1:p.Val1390SerfsTer19
XM_011515752.1:c.4167_4170del	XP_011514054.1:p.Val1390SerfsTer19
XM_011515753.1:c.3834_3837del	XP_011514055.1:p.Val1279SerfsTer19
XM_011515754.1:c.3834_3837del	XP_011514056.1:p.Val1279SerfsTer19
NM_000492.4:c.4077_4080del MANE Select	NP_000483.3:p.Val1360SerfsTer19