Canonical Allele Identifier: CA368983409

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305533G>A (hg19) ; chr7:g.117665479G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665479G>A , CM000669.2:g.117665479G>A	GRCh38
NC_000007.13:g.117305533G>A , CM000669.1:g.117305533G>A	GRCh37
NC_000007.12:g.117092769G>A	NCBI36
NG_016465.4:g.204696G>A , LRG_663:g.204696G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*366G>A	ENSP00000497673.2:n.*366G>A
ENST00000647978.2:c.*3871G>A	ENSP00000497658.1:n.*3871G>A
ENST00000649781.2:c.3974G>A	ENSP00000497203.1:p.Arg1325Lys
ENST00000685018.2:c.*370G>A	ENSP00000510194.2:n.*370G>A
ENST00000687278.2:c.*810G>A	ENSP00000509593.2:n.*810G>A
ENST00000699585.1:c.*366G>A	ENSP00000514456.1:n.*366G>A
ENST00000699598.1:c.4157G>A	ENSP00000514467.1:p.Arg1386Lys
ENST00000699599.1:c.*370G>A	ENSP00000514468.1:n.*370G>A
ENST00000699600.1:c.*818G>A	ENSP00000514469.1:n.*818G>A
ENST00000699601.1:c.*2532G>A	ENSP00000514470.1:n.*2532G>A
ENST00000699602.1:c.4151G>A	ENSP00000514471.1:p.Arg1384Lys
ENST00000699604.1:c.*3981G>A	ENSP00000514472.1:n.*3981G>A
ENST00000699605.1:c.3731G>A	ENSP00000514473.1:p.Arg1244Lys
ENST00000699606.1:n.2325G>A
ENST00000685018.1:c.1021G>A	ENSP00000510194.1:n.1021G>A
ENST00000687278.1:c.1944G>A	ENSP00000509593.1:n.1944G>A
ENST00000689011.1:c.739G>A
ENST00000003084.11:c.4157G>A MANE Select	ENSP00000003084.6:p.Arg1386Lys
ENST00000647720.1:c.1607G>A
ENST00000649781.1:c.3974G>A	ENSP00000497203.1:p.Arg1325Lys
ENST00000003084.10:c.4157G>A	ENSP00000003084.6:p.Arg1386Lys
ENST00000426809.5:c.4067G>A	ENSP00000389119.1:p.Arg1356Lys
ENST00000600166.1:c.283G>A
NM_000492.3:c.4157G>A , LRG_663t1:c.4157G>A	NP_000483.3:p.Arg1386Lys
XM_011515751.1:c.4247G>A	XP_011514053.1:p.Arg1416Lys
XM_011515752.1:c.4247G>A	XP_011514054.1:p.Arg1416Lys
XM_011515753.1:c.3914G>A	XP_011514055.1:p.Arg1305Lys
XM_011515754.1:c.3914G>A	XP_011514056.1:p.Arg1305Lys
NM_000492.4:c.4157G>A MANE Select	NP_000483.3:p.Arg1386Lys