Canonical Allele Identifier: CA457230261

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304753A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664699A>G , CM000669.2:g.117664699A>G	GRCh38
NC_000007.13:g.117304753A>G , CM000669.1:g.117304753A>G	GRCh37
NC_000007.12:g.117091989A>G	NCBI36
NG_016465.4:g.203916A>G , LRG_663:g.203916A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*184A>G	ENSP00000497673.2:n.*184A>G
ENST00000647978.2:c.*3689A>G	ENSP00000497658.1:n.*3689A>G
ENST00000649781.2:c.3792A>G	ENSP00000497203.1:p.Arg1264=
ENST00000685018.2:c.*188A>G	ENSP00000510194.2:n.*188A>G
ENST00000687278.2:c.*628A>G	ENSP00000509593.2:n.*628A>G
ENST00000699585.1:c.*184A>G	ENSP00000514456.1:n.*184A>G
ENST00000699598.1:c.3975A>G	ENSP00000514467.1:p.Arg1325=
ENST00000699599.1:c.*188A>G	ENSP00000514468.1:n.*188A>G
ENST00000699600.1:c.*636A>G	ENSP00000514469.1:n.*636A>G
ENST00000699601.1:c.*2350A>G	ENSP00000514470.1:n.*2350A>G
ENST00000699602.1:c.3969A>G	ENSP00000514471.1:p.Arg1323=
ENST00000699604.1:c.*3799A>G	ENSP00000514472.1:n.*3799A>G
ENST00000699605.1:c.3549A>G	ENSP00000514473.1:p.Arg1183=
ENST00000699606.1:n.2143A>G
ENST00000685018.1:c.839A>G	ENSP00000510194.1:n.839A>G
ENST00000687278.1:c.1762A>G	ENSP00000509593.1:n.1762A>G
ENST00000689011.1:c.557A>G
ENST00000003084.11:c.3975A>G MANE Select	ENSP00000003084.6:p.Arg1325=
ENST00000647720.1:c.1425A>G
ENST00000649781.1:c.3792A>G	ENSP00000497203.1:p.Arg1264=
ENST00000003084.10:c.3975A>G	ENSP00000003084.6:p.Arg1325=
ENST00000426809.5:c.3885A>G	ENSP00000389119.1:p.Arg1295=
ENST00000600166.1:c.101A>G
NM_000492.3:c.3975A>G , LRG_663t1:c.3975A>G	NP_000483.3:p.Arg1325=
XM_011515751.1:c.4065A>G	XP_011514053.1:p.Arg1355=
XM_011515752.1:c.4065A>G	XP_011514054.1:p.Arg1355=
XM_011515753.1:c.3732A>G	XP_011514055.1:p.Arg1244=
XM_011515754.1:c.3732A>G	XP_011514056.1:p.Arg1244=
NM_000492.4:c.3975A>G MANE Select	NP_000483.3:p.Arg1325=