Canonical Allele Identifier: CA368978113

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117292921T>A (hg19) ; chr7:g.117652867T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652867T>A , CM000669.2:g.117652867T>A	GRCh38
NC_000007.13:g.117292921T>A , CM000669.1:g.117292921T>A	GRCh37
NC_000007.12:g.117080157T>A	NCBI36
NG_016465.4:g.192084T>A , LRG_663:g.192084T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*108T>A	ENSP00000497673.2:n.*108T>A
ENST00000647978.2:c.*3613T>A	ENSP00000497658.1:n.*3613T>A
ENST00000649781.2:c.3716T>A	ENSP00000497203.1:p.Phe1239Tyr
ENST00000685018.2:c.*112T>A	ENSP00000510194.2:n.*112T>A
ENST00000687278.2:c.*552T>A	ENSP00000509593.2:n.*552T>A
ENST00000699585.1:c.*108T>A	ENSP00000514456.1:n.*108T>A
ENST00000699598.1:c.3899T>A	ENSP00000514467.1:p.Phe1300Tyr
ENST00000699599.1:c.*112T>A	ENSP00000514468.1:n.*112T>A
ENST00000699600.1:c.*560T>A	ENSP00000514469.1:n.*560T>A
ENST00000699601.1:c.*2274T>A	ENSP00000514470.1:n.*2274T>A
ENST00000699602.1:c.3893T>A	ENSP00000514471.1:p.Phe1298Tyr
ENST00000699604.1:c.*3723T>A	ENSP00000514472.1:n.*3723T>A
ENST00000699605.1:c.3473T>A	ENSP00000514473.1:p.Phe1158Tyr
ENST00000699606.1:n.2067T>A
ENST00000685018.1:c.763T>A	ENSP00000510194.1:n.763T>A
ENST00000687278.1:c.1686T>A	ENSP00000509593.1:n.1686T>A
ENST00000689011.1:c.481T>A
ENST00000003084.11:c.3899T>A MANE Select	ENSP00000003084.6:p.Phe1300Tyr
ENST00000647720.1:c.1349T>A
ENST00000649781.1:c.3716T>A	ENSP00000497203.1:p.Phe1239Tyr
ENST00000003084.10:c.3899T>A	ENSP00000003084.6:p.Phe1300Tyr
ENST00000426809.5:c.3809T>A	ENSP00000389119.1:p.Phe1270Tyr
ENST00000600166.1:c.25T>A
NM_000492.3:c.3899T>A , LRG_663t1:c.3899T>A	NP_000483.3:p.Phe1300Tyr
XM_011515751.1:c.3989T>A	XP_011514053.1:p.Phe1330Tyr
XM_011515752.1:c.3989T>A	XP_011514054.1:p.Phe1330Tyr
XM_011515753.1:c.3656T>A	XP_011514055.1:p.Phe1219Tyr
XM_011515754.1:c.3656T>A	XP_011514056.1:p.Phe1219Tyr
NM_000492.4:c.3899T>A MANE Select	NP_000483.3:p.Phe1300Tyr