Canonical Allele Identifier: CA327257

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627770G>A , CM000669.2:g.117627770G>A	GRCh38
NC_000007.13:g.117267824G>A , CM000669.1:g.117267824G>A	GRCh37
NC_000007.12:g.117055060G>A	NCBI36
NG_016465.4:g.166987G>A , LRG_663:g.166987G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3717G>A MANE Select	NP_000483.3:p.Arg1239=
ENST00000003084.11:c.3717G>A MANE Select	ENSP00000003084.6:p.Arg1239=
NM_000492.3:c.3717G>A , LRG_663t1:c.3717G>A	NP_000483.3:p.Arg1239=
ENST00000003084.10:c.3717G>A	ENSP00000003084.6:p.Arg1239=
ENST00000426809.5:c.3627G>A	ENSP00000389119.1:p.Arg1209=
ENST00000468795.1:c.542G>A
ENST00000647720.1:c.1167+200G>A
ENST00000647720.2:c.3517+200G>A	ENSP00000497673.2:n.3517+200G>A
ENST00000647978.2:c.*3431G>A	ENSP00000497658.1:n.*3431G>A
ENST00000648260.1:c.2499G>A	ENSP00000497957.1:p.Arg833=
ENST00000649406.1:c.3534G>A	ENSP00000497965.1:p.Arg1178=
ENST00000649781.1:c.3534G>A	ENSP00000497203.1:p.Arg1178=
ENST00000649781.2:c.3534G>A	ENSP00000497203.1:p.Arg1178=
ENST00000685018.1:c.465G>A	ENSP00000510194.1:p.Arg155=
ENST00000685018.2:c.3717G>A	ENSP00000510194.2:p.Arg1239=
ENST00000687278.1:c.1504G>A	ENSP00000509593.1:n.1504G>A
ENST00000687278.2:c.*370G>A	ENSP00000509593.2:n.*370G>A
ENST00000689011.1:c.299G>A
ENST00000699585.1:c.3517+200G>A	ENSP00000514456.1:n.3517+200G>A
ENST00000699598.1:c.3717G>A	ENSP00000514467.1:p.Arg1239=
ENST00000699599.1:c.3717G>A	ENSP00000514468.1:p.Arg1239=
ENST00000699600.1:c.*378G>A	ENSP00000514469.1:n.*378G>A
ENST00000699601.1:c.*2092G>A	ENSP00000514470.1:n.*2092G>A
ENST00000699602.1:c.3711G>A	ENSP00000514471.1:p.Arg1237=
ENST00000699604.1:c.*3541G>A	ENSP00000514472.1:n.*3541G>A
ENST00000699605.1:c.3291G>A	ENSP00000514473.1:p.Arg1097=
XM_011515751.1:c.3807G>A	XP_011514053.1:p.Arg1269=
XM_011515752.1:c.3807G>A	XP_011514054.1:p.Arg1269=
XM_011515753.1:c.3474G>A	XP_011514055.1:p.Arg1158=
XM_011515754.1:c.3474G>A	XP_011514056.1:p.Arg1158=