Canonical Allele Identifier: CA368983395

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305530G>T (hg19) ; chr7:g.117665476G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665476G>T , CM000669.2:g.117665476G>T	GRCh38
NC_000007.13:g.117305530G>T , CM000669.1:g.117305530G>T	GRCh37
NC_000007.12:g.117092766G>T	NCBI36
NG_016465.4:g.204693G>T , LRG_663:g.204693G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*363G>T	ENSP00000497673.2:n.*363G>T
ENST00000647978.2:c.*3868G>T	ENSP00000497658.1:n.*3868G>T
ENST00000649781.2:c.3971G>T	ENSP00000497203.1:p.Arg1324Ile
ENST00000685018.2:c.*367G>T	ENSP00000510194.2:n.*367G>T
ENST00000687278.2:c.*807G>T	ENSP00000509593.2:n.*807G>T
ENST00000699585.1:c.*363G>T	ENSP00000514456.1:n.*363G>T
ENST00000699598.1:c.4154G>T	ENSP00000514467.1:p.Arg1385Ile
ENST00000699599.1:c.*367G>T	ENSP00000514468.1:n.*367G>T
ENST00000699600.1:c.*815G>T	ENSP00000514469.1:n.*815G>T
ENST00000699601.1:c.*2529G>T	ENSP00000514470.1:n.*2529G>T
ENST00000699602.1:c.4148G>T	ENSP00000514471.1:p.Arg1383Ile
ENST00000699604.1:c.*3978G>T	ENSP00000514472.1:n.*3978G>T
ENST00000699605.1:c.3728G>T	ENSP00000514473.1:p.Arg1243Ile
ENST00000699606.1:n.2322G>T
ENST00000685018.1:c.1018G>T	ENSP00000510194.1:n.1018G>T
ENST00000687278.1:c.1941G>T	ENSP00000509593.1:n.1941G>T
ENST00000689011.1:c.736G>T
ENST00000003084.11:c.4154G>T MANE Select	ENSP00000003084.6:p.Arg1385Ile
ENST00000647720.1:c.1604G>T
ENST00000649781.1:c.3971G>T	ENSP00000497203.1:p.Arg1324Ile
ENST00000003084.10:c.4154G>T	ENSP00000003084.6:p.Arg1385Ile
ENST00000426809.5:c.4064G>T	ENSP00000389119.1:p.Arg1355Ile
ENST00000600166.1:c.280G>T
NM_000492.3:c.4154G>T , LRG_663t1:c.4154G>T	NP_000483.3:p.Arg1385Ile
XM_011515751.1:c.4244G>T	XP_011514053.1:p.Arg1415Ile
XM_011515752.1:c.4244G>T	XP_011514054.1:p.Arg1415Ile
XM_011515753.1:c.3911G>T	XP_011514055.1:p.Arg1304Ile
XM_011515754.1:c.3911G>T	XP_011514056.1:p.Arg1304Ile
NM_000492.4:c.4154G>T MANE Select	NP_000483.3:p.Arg1385Ile