Canonical Allele Identifier: CA368978119

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117292922T>A (hg19) ; chr7:g.117652868T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652868T>A , CM000669.2:g.117652868T>A	GRCh38
NC_000007.13:g.117292922T>A , CM000669.1:g.117292922T>A	GRCh37
NC_000007.12:g.117080158T>A	NCBI36
NG_016465.4:g.192085T>A , LRG_663:g.192085T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*109T>A	ENSP00000497673.2:n.*109T>A
ENST00000647978.2:c.*3614T>A	ENSP00000497658.1:n.*3614T>A
ENST00000649781.2:c.3717T>A	ENSP00000497203.1:p.Phe1239Leu
ENST00000685018.2:c.*113T>A	ENSP00000510194.2:n.*113T>A
ENST00000687278.2:c.*553T>A	ENSP00000509593.2:n.*553T>A
ENST00000699585.1:c.*109T>A	ENSP00000514456.1:n.*109T>A
ENST00000699598.1:c.3900T>A	ENSP00000514467.1:p.Phe1300Leu
ENST00000699599.1:c.*113T>A	ENSP00000514468.1:n.*113T>A
ENST00000699600.1:c.*561T>A	ENSP00000514469.1:n.*561T>A
ENST00000699601.1:c.*2275T>A	ENSP00000514470.1:n.*2275T>A
ENST00000699602.1:c.3894T>A	ENSP00000514471.1:p.Phe1298Leu
ENST00000699604.1:c.*3724T>A	ENSP00000514472.1:n.*3724T>A
ENST00000699605.1:c.3474T>A	ENSP00000514473.1:p.Phe1158Leu
ENST00000699606.1:n.2068T>A
ENST00000685018.1:c.764T>A	ENSP00000510194.1:n.764T>A
ENST00000687278.1:c.1687T>A	ENSP00000509593.1:n.1687T>A
ENST00000689011.1:c.482T>A
ENST00000003084.11:c.3900T>A MANE Select	ENSP00000003084.6:p.Phe1300Leu
ENST00000647720.1:c.1350T>A
ENST00000649781.1:c.3717T>A	ENSP00000497203.1:p.Phe1239Leu
ENST00000003084.10:c.3900T>A	ENSP00000003084.6:p.Phe1300Leu
ENST00000426809.5:c.3810T>A	ENSP00000389119.1:p.Phe1270Leu
ENST00000600166.1:c.26T>A
NM_000492.3:c.3900T>A , LRG_663t1:c.3900T>A	NP_000483.3:p.Phe1300Leu
XM_011515751.1:c.3990T>A	XP_011514053.1:p.Phe1330Leu
XM_011515752.1:c.3990T>A	XP_011514054.1:p.Phe1330Leu
XM_011515753.1:c.3657T>A	XP_011514055.1:p.Phe1219Leu
XM_011515754.1:c.3657T>A	XP_011514056.1:p.Phe1219Leu
NM_000492.4:c.3900T>A MANE Select	NP_000483.3:p.Phe1300Leu