Canonical Allele Identifier: CA368982188

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304789T>A (hg19) ; chr7:g.117664735T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664735T>A , CM000669.2:g.117664735T>A	GRCh38
NC_000007.13:g.117304789T>A , CM000669.1:g.117304789T>A	GRCh37
NC_000007.12:g.117092025T>A	NCBI36
NG_016465.4:g.203952T>A , LRG_663:g.203952T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*220T>A	ENSP00000497673.2:n.*220T>A
ENST00000647978.2:c.*3725T>A	ENSP00000497658.1:n.*3725T>A
ENST00000649781.2:c.3828T>A	ENSP00000497203.1:p.Phe1276Leu
ENST00000685018.2:c.*224T>A	ENSP00000510194.2:n.*224T>A
ENST00000687278.2:c.*664T>A	ENSP00000509593.2:n.*664T>A
ENST00000699585.1:c.*220T>A	ENSP00000514456.1:n.*220T>A
ENST00000699598.1:c.4011T>A	ENSP00000514467.1:p.Phe1337Leu
ENST00000699599.1:c.*224T>A	ENSP00000514468.1:n.*224T>A
ENST00000699600.1:c.*672T>A	ENSP00000514469.1:n.*672T>A
ENST00000699601.1:c.*2386T>A	ENSP00000514470.1:n.*2386T>A
ENST00000699602.1:c.4005T>A	ENSP00000514471.1:p.Phe1335Leu
ENST00000699604.1:c.*3835T>A	ENSP00000514472.1:n.*3835T>A
ENST00000699605.1:c.3585T>A	ENSP00000514473.1:p.Phe1195Leu
ENST00000699606.1:n.2179T>A
ENST00000685018.1:c.875T>A	ENSP00000510194.1:n.875T>A
ENST00000687278.1:c.1798T>A	ENSP00000509593.1:n.1798T>A
ENST00000689011.1:c.593T>A
ENST00000003084.11:c.4011T>A MANE Select	ENSP00000003084.6:p.Phe1337Leu
ENST00000647720.1:c.1461T>A
ENST00000649781.1:c.3828T>A	ENSP00000497203.1:p.Phe1276Leu
ENST00000003084.10:c.4011T>A	ENSP00000003084.6:p.Phe1337Leu
ENST00000426809.5:c.3921T>A	ENSP00000389119.1:p.Phe1307Leu
ENST00000600166.1:c.137T>A
NM_000492.3:c.4011T>A , LRG_663t1:c.4011T>A	NP_000483.3:p.Phe1337Leu
XM_011515751.1:c.4101T>A	XP_011514053.1:p.Phe1367Leu
XM_011515752.1:c.4101T>A	XP_011514054.1:p.Phe1367Leu
XM_011515753.1:c.3768T>A	XP_011514055.1:p.Phe1256Leu
XM_011515754.1:c.3768T>A	XP_011514056.1:p.Phe1256Leu
NM_000492.4:c.4011T>A MANE Select	NP_000483.3:p.Phe1337Leu