Canonical Allele Identifier: CA4451607

Gene: CFTR

Linked Data

• dbSNP Id: rs780170679
• ExAC: 7:117304771 T / A
• gnomAD v2: 7-117304771-T-A
• gnomAD v3: 7-117664717-T-A
• gnomAD v4: 7-117664717-T-A
• MyVariant Identifiers: chr7:g.117304771T>A (hg19) ; chr7:g.117664717T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664717T>A , CM000669.2:g.117664717T>A	GRCh38
NC_000007.13:g.117304771T>A , CM000669.1:g.117304771T>A	GRCh37
NC_000007.12:g.117092007T>A	NCBI36
NG_016465.4:g.203934T>A , LRG_663:g.203934T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*202T>A	ENSP00000497673.2:n.*202T>A
ENST00000647978.2:c.*3707T>A	ENSP00000497658.1:n.*3707T>A
ENST00000649781.2:c.3810T>A	ENSP00000497203.1:p.Phe1270Leu
ENST00000685018.2:c.*206T>A	ENSP00000510194.2:n.*206T>A
ENST00000687278.2:c.*646T>A	ENSP00000509593.2:n.*646T>A
ENST00000699585.1:c.*202T>A	ENSP00000514456.1:n.*202T>A
ENST00000699598.1:c.3993T>A	ENSP00000514467.1:p.Phe1331Leu
ENST00000699599.1:c.*206T>A	ENSP00000514468.1:n.*206T>A
ENST00000699600.1:c.*654T>A	ENSP00000514469.1:n.*654T>A
ENST00000699601.1:c.*2368T>A	ENSP00000514470.1:n.*2368T>A
ENST00000699602.1:c.3987T>A	ENSP00000514471.1:p.Phe1329Leu
ENST00000699604.1:c.*3817T>A	ENSP00000514472.1:n.*3817T>A
ENST00000699605.1:c.3567T>A	ENSP00000514473.1:p.Phe1189Leu
ENST00000699606.1:n.2161T>A
ENST00000685018.1:c.857T>A	ENSP00000510194.1:n.857T>A
ENST00000687278.1:c.1780T>A	ENSP00000509593.1:n.1780T>A
ENST00000689011.1:c.575T>A
ENST00000003084.11:c.3993T>A MANE Select	ENSP00000003084.6:p.Phe1331Leu
ENST00000647720.1:c.1443T>A
ENST00000649781.1:c.3810T>A	ENSP00000497203.1:p.Phe1270Leu
ENST00000003084.10:c.3993T>A	ENSP00000003084.6:p.Phe1331Leu
ENST00000426809.5:c.3903T>A	ENSP00000389119.1:p.Phe1301Leu
ENST00000600166.1:c.119T>A
NM_000492.3:c.3993T>A , LRG_663t1:c.3993T>A	NP_000483.3:p.Phe1331Leu
XM_011515751.1:c.4083T>A	XP_011514053.1:p.Phe1361Leu
XM_011515752.1:c.4083T>A	XP_011514054.1:p.Phe1361Leu
XM_011515753.1:c.3750T>A	XP_011514055.1:p.Phe1250Leu
XM_011515754.1:c.3750T>A	XP_011514056.1:p.Phe1250Leu
NM_000492.4:c.3993T>A MANE Select	NP_000483.3:p.Phe1331Leu