Canonical Allele Identifier: CA368996073

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267603T>A (hg19) ; chr7:g.117627549T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627549T>A , CM000669.2:g.117627549T>A	GRCh38
NC_000007.13:g.117267603T>A , CM000669.1:g.117267603T>A	GRCh37
NC_000007.12:g.117054839T>A	NCBI36
NG_016465.4:g.166766T>A , LRG_663:g.166766T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3496T>A	ENSP00000497673.2:p.Phe1166Ile
ENST00000647978.2:c.*3210T>A	ENSP00000497658.1:n.*3210T>A
ENST00000649781.2:c.3313T>A	ENSP00000497203.1:p.Phe1105Ile
ENST00000685018.2:c.3496T>A	ENSP00000510194.2:p.Phe1166Ile
ENST00000687278.2:c.*149T>A	ENSP00000509593.2:n.*149T>A
ENST00000699585.1:c.3496T>A	ENSP00000514456.1:p.Phe1166Ile
ENST00000699598.1:c.3496T>A	ENSP00000514467.1:p.Phe1166Ile
ENST00000699599.1:c.3496T>A	ENSP00000514468.1:p.Phe1166Ile
ENST00000699600.1:c.*157T>A	ENSP00000514469.1:n.*157T>A
ENST00000699601.1:c.*1871T>A	ENSP00000514470.1:n.*1871T>A
ENST00000699602.1:c.3490T>A	ENSP00000514471.1:p.Phe1164Ile
ENST00000699604.1:c.*3320T>A	ENSP00000514472.1:n.*3320T>A
ENST00000699605.1:c.3070T>A	ENSP00000514473.1:p.Phe1024Ile
ENST00000685018.1:c.244T>A	ENSP00000510194.1:p.Phe82Ile
ENST00000687278.1:c.1283T>A	ENSP00000509593.1:n.1283T>A
ENST00000689011.1:c.78T>A
ENST00000003084.11:c.3496T>A MANE Select	ENSP00000003084.6:p.Phe1166Ile
ENST00000647720.1:c.1146T>A
ENST00000648260.1:c.2278T>A	ENSP00000497957.1:p.Phe760Ile
ENST00000649406.1:c.3313T>A	ENSP00000497965.1:p.Phe1105Ile
ENST00000649781.1:c.3313T>A	ENSP00000497203.1:p.Phe1105Ile
ENST00000003084.10:c.3496T>A	ENSP00000003084.6:p.Phe1166Ile
ENST00000426809.5:c.3406T>A	ENSP00000389119.1:p.Phe1136Ile
ENST00000468795.1:c.321T>A
NM_000492.3:c.3496T>A , LRG_663t1:c.3496T>A	NP_000483.3:p.Phe1166Ile
XM_011515751.1:c.3586T>A	XP_011514053.1:p.Phe1196Ile
XM_011515752.1:c.3586T>A	XP_011514054.1:p.Phe1196Ile
XM_011515753.1:c.3253T>A	XP_011514055.1:p.Phe1085Ile
XM_011515754.1:c.3253T>A	XP_011514056.1:p.Phe1085Ile
NM_000492.4:c.3496T>A MANE Select	NP_000483.3:p.Phe1166Ile