Canonical Allele Identifier: CA368982682

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304851G>A (hg19) ; chr7:g.117664797G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664797G>A , CM000669.2:g.117664797G>A	GRCh38
NC_000007.13:g.117304851G>A , CM000669.1:g.117304851G>A	GRCh37
NC_000007.12:g.117092087G>A	NCBI36
NG_016465.4:g.204014G>A , LRG_663:g.204014G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*282G>A	ENSP00000497673.2:n.*282G>A
ENST00000647978.2:c.*3787G>A	ENSP00000497658.1:n.*3787G>A
ENST00000649781.2:c.3890G>A	ENSP00000497203.1:p.Arg1297Lys
ENST00000685018.2:c.*286G>A	ENSP00000510194.2:n.*286G>A
ENST00000687278.2:c.*726G>A	ENSP00000509593.2:n.*726G>A
ENST00000699585.1:c.*282G>A	ENSP00000514456.1:n.*282G>A
ENST00000699598.1:c.4073G>A	ENSP00000514467.1:p.Arg1358Lys
ENST00000699599.1:c.*286G>A	ENSP00000514468.1:n.*286G>A
ENST00000699600.1:c.*734G>A	ENSP00000514469.1:n.*734G>A
ENST00000699601.1:c.*2448G>A	ENSP00000514470.1:n.*2448G>A
ENST00000699602.1:c.4067G>A	ENSP00000514471.1:p.Arg1356Lys
ENST00000699604.1:c.*3897G>A	ENSP00000514472.1:n.*3897G>A
ENST00000699605.1:c.3647G>A	ENSP00000514473.1:p.Arg1216Lys
ENST00000699606.1:n.2241G>A
ENST00000685018.1:c.937G>A	ENSP00000510194.1:n.937G>A
ENST00000687278.1:c.1860G>A	ENSP00000509593.1:n.1860G>A
ENST00000689011.1:c.655G>A
ENST00000003084.11:c.4073G>A MANE Select	ENSP00000003084.6:p.Arg1358Lys
ENST00000647720.1:c.1523G>A
ENST00000649781.1:c.3890G>A	ENSP00000497203.1:p.Arg1297Lys
ENST00000003084.10:c.4073G>A	ENSP00000003084.6:p.Arg1358Lys
ENST00000426809.5:c.3983G>A	ENSP00000389119.1:p.Arg1328Lys
ENST00000600166.1:c.199G>A
NM_000492.3:c.4073G>A , LRG_663t1:c.4073G>A	NP_000483.3:p.Arg1358Lys
XM_011515751.1:c.4163G>A	XP_011514053.1:p.Arg1388Lys
XM_011515752.1:c.4163G>A	XP_011514054.1:p.Arg1388Lys
XM_011515753.1:c.3830G>A	XP_011514055.1:p.Arg1277Lys
XM_011515754.1:c.3830G>A	XP_011514056.1:p.Arg1277Lys
NM_000492.4:c.4073G>A MANE Select	NP_000483.3:p.Arg1358Lys