Canonical Allele Identifier: CA368981715

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304745G>A (hg19) ; chr7:g.117664691G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664691G>A , CM000669.2:g.117664691G>A	GRCh38
NC_000007.13:g.117304745G>A , CM000669.1:g.117304745G>A	GRCh37
NC_000007.12:g.117091981G>A	NCBI36
NG_016465.4:g.203908G>A , LRG_663:g.203908G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*176G>A	ENSP00000497673.2:n.*176G>A
ENST00000647978.2:c.*3681G>A	ENSP00000497658.1:n.*3681G>A
ENST00000649781.2:c.3784G>A	ENSP00000497203.1:p.Gly1262Arg
ENST00000685018.2:c.*180G>A	ENSP00000510194.2:n.*180G>A
ENST00000687278.2:c.*620G>A	ENSP00000509593.2:n.*620G>A
ENST00000699585.1:c.*176G>A	ENSP00000514456.1:n.*176G>A
ENST00000699598.1:c.3967G>A	ENSP00000514467.1:p.Gly1323Arg
ENST00000699599.1:c.*180G>A	ENSP00000514468.1:n.*180G>A
ENST00000699600.1:c.*628G>A	ENSP00000514469.1:n.*628G>A
ENST00000699601.1:c.*2342G>A	ENSP00000514470.1:n.*2342G>A
ENST00000699602.1:c.3961G>A	ENSP00000514471.1:p.Gly1321Arg
ENST00000699604.1:c.*3791G>A	ENSP00000514472.1:n.*3791G>A
ENST00000699605.1:c.3541G>A	ENSP00000514473.1:p.Gly1181Arg
ENST00000699606.1:n.2135G>A
ENST00000685018.1:c.831G>A	ENSP00000510194.1:n.831G>A
ENST00000687278.1:c.1754G>A	ENSP00000509593.1:n.1754G>A
ENST00000689011.1:c.549G>A
ENST00000003084.11:c.3967G>A MANE Select	ENSP00000003084.6:p.Gly1323Arg
ENST00000647720.1:c.1417G>A
ENST00000649781.1:c.3784G>A	ENSP00000497203.1:p.Gly1262Arg
ENST00000003084.10:c.3967G>A	ENSP00000003084.6:p.Gly1323Arg
ENST00000426809.5:c.3877G>A	ENSP00000389119.1:p.Gly1293Arg
ENST00000600166.1:c.93G>A
NM_000492.3:c.3967G>A , LRG_663t1:c.3967G>A	NP_000483.3:p.Gly1323Arg
XM_011515751.1:c.4057G>A	XP_011514053.1:p.Gly1353Arg
XM_011515752.1:c.4057G>A	XP_011514054.1:p.Gly1353Arg
XM_011515753.1:c.3724G>A	XP_011514055.1:p.Gly1242Arg
XM_011515754.1:c.3724G>A	XP_011514056.1:p.Gly1242Arg
NM_000492.4:c.3967G>A MANE Select	NP_000483.3:p.Gly1323Arg