Canonical Allele Identifier: CA368975447

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282618T>A (hg19) ; chr7:g.117642564T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642564T>A , CM000669.2:g.117642564T>A	GRCh38
NC_000007.13:g.117282618T>A , CM000669.1:g.117282618T>A	GRCh37
NC_000007.12:g.117069854T>A	NCBI36
NG_016465.4:g.181781T>A , LRG_663:g.181781T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*53T>A	ENSP00000497673.2:n.*53T>A
ENST00000647978.2:c.*3558T>A	ENSP00000497658.1:n.*3558T>A
ENST00000649781.2:c.3661T>A	ENSP00000497203.1:p.Trp1221Arg
ENST00000685018.2:c.3844T>A	ENSP00000510194.2:p.Trp1282Arg
ENST00000687278.2:c.*497T>A	ENSP00000509593.2:n.*497T>A
ENST00000699585.1:c.*53T>A	ENSP00000514456.1:n.*53T>A
ENST00000699598.1:c.3844T>A	ENSP00000514467.1:p.Trp1282Arg
ENST00000699599.1:c.3844T>A	ENSP00000514468.1:p.Trp1282Arg
ENST00000699600.1:c.*505T>A	ENSP00000514469.1:n.*505T>A
ENST00000699601.1:c.*2219T>A	ENSP00000514470.1:n.*2219T>A
ENST00000699602.1:c.3838T>A	ENSP00000514471.1:p.Trp1280Arg
ENST00000699604.1:c.*3668T>A	ENSP00000514472.1:n.*3668T>A
ENST00000699605.1:c.3418T>A	ENSP00000514473.1:p.Trp1140Arg
ENST00000685018.1:c.592T>A	ENSP00000510194.1:p.Trp198Arg
ENST00000687278.1:c.1631T>A	ENSP00000509593.1:n.1631T>A
ENST00000689011.1:c.426T>A
ENST00000003084.11:c.3844T>A MANE Select	ENSP00000003084.6:p.Trp1282Arg
ENST00000647720.1:c.1294T>A
ENST00000649781.1:c.3661T>A	ENSP00000497203.1:p.Trp1221Arg
ENST00000003084.10:c.3844T>A	ENSP00000003084.6:p.Trp1282Arg
ENST00000426809.5:c.3754T>A	ENSP00000389119.1:p.Trp1252Arg
NM_000492.3:c.3844T>A , LRG_663t1:c.3844T>A	NP_000483.3:p.Trp1282Arg
XM_011515751.1:c.3934T>A	XP_011514053.1:p.Trp1312Arg
XM_011515752.1:c.3934T>A	XP_011514054.1:p.Trp1312Arg
XM_011515753.1:c.3601T>A	XP_011514055.1:p.Trp1201Arg
XM_011515754.1:c.3601T>A	XP_011514056.1:p.Trp1201Arg
NM_000492.4:c.3844T>A MANE Select	NP_000483.3:p.Trp1282Arg