Canonical Allele Identifier: CA368982388

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1677110
• ClinVar RCV Id: RCV002222968 ; RCV002325711
• dbSNP Id: rs1371379517
• gnomAD v3: 7-117664757-G-A
• gnomAD v4: 7-117664757-G-A
• MyVariant Identifiers: chr7:g.117304811G>A (hg19) ; chr7:g.117664757G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664757G>A , CM000669.2:g.117664757G>A	GRCh38
NC_000007.13:g.117304811G>A , CM000669.1:g.117304811G>A	GRCh37
NC_000007.12:g.117092047G>A	NCBI36
NG_016465.4:g.203974G>A , LRG_663:g.203974G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*242G>A	ENSP00000497673.2:n.*242G>A
ENST00000647978.2:c.*3747G>A	ENSP00000497658.1:n.*3747G>A
ENST00000649781.2:c.3850G>A	ENSP00000497203.1:p.Val1284Ile
ENST00000685018.2:c.*246G>A	ENSP00000510194.2:n.*246G>A
ENST00000687278.2:c.*686G>A	ENSP00000509593.2:n.*686G>A
ENST00000699585.1:c.*242G>A	ENSP00000514456.1:n.*242G>A
ENST00000699598.1:c.4033G>A	ENSP00000514467.1:p.Val1345Ile
ENST00000699599.1:c.*246G>A	ENSP00000514468.1:n.*246G>A
ENST00000699600.1:c.*694G>A	ENSP00000514469.1:n.*694G>A
ENST00000699601.1:c.*2408G>A	ENSP00000514470.1:n.*2408G>A
ENST00000699602.1:c.4027G>A	ENSP00000514471.1:p.Val1343Ile
ENST00000699604.1:c.*3857G>A	ENSP00000514472.1:n.*3857G>A
ENST00000699605.1:c.3607G>A	ENSP00000514473.1:p.Val1203Ile
ENST00000699606.1:n.2201G>A
ENST00000685018.1:c.897G>A	ENSP00000510194.1:n.897G>A
ENST00000687278.1:c.1820G>A	ENSP00000509593.1:n.1820G>A
ENST00000689011.1:c.615G>A
ENST00000003084.11:c.4033G>A MANE Select	ENSP00000003084.6:p.Val1345Ile
ENST00000647720.1:c.1483G>A
ENST00000649781.1:c.3850G>A	ENSP00000497203.1:p.Val1284Ile
ENST00000003084.10:c.4033G>A	ENSP00000003084.6:p.Val1345Ile
ENST00000426809.5:c.3943G>A	ENSP00000389119.1:p.Val1315Ile
ENST00000600166.1:c.159G>A
NM_000492.3:c.4033G>A , LRG_663t1:c.4033G>A	NP_000483.3:p.Val1345Ile
XM_011515751.1:c.4123G>A	XP_011514053.1:p.Val1375Ile
XM_011515752.1:c.4123G>A	XP_011514054.1:p.Val1375Ile
XM_011515753.1:c.3790G>A	XP_011514055.1:p.Val1264Ile
XM_011515754.1:c.3790G>A	XP_011514056.1:p.Val1264Ile
NM_000492.4:c.4033G>A MANE Select	NP_000483.3:p.Val1345Ile