Canonical Allele Identifier: CA1737398601

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627525C= , CM000669.2:g.117627525C=	GRCh38
NC_000007.13:g.117267579C= , CM000669.1:g.117267579C=	GRCh37
NC_000007.12:g.117054815C=	NCBI36
NG_016465.4:g.166742C= , LRG_663:g.166742C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3472C=	ENSP00000497673.2:p.Arg1158=
ENST00000647978.2:c.*3186C=	ENSP00000497658.1:n.*3186C=
ENST00000649781.2:c.3289C=	ENSP00000497203.1:p.Arg1097=
ENST00000685018.2:c.3472C=	ENSP00000510194.2:p.Arg1158=
ENST00000687278.2:c.*125C=	ENSP00000509593.2:n.*125C=
ENST00000699585.1:c.3472C=	ENSP00000514456.1:p.Arg1158=
ENST00000699598.1:c.3472C=	ENSP00000514467.1:p.Arg1158=
ENST00000699599.1:c.3472C=	ENSP00000514468.1:p.Arg1158=
ENST00000699600.1:c.*133C=	ENSP00000514469.1:n.*133C=
ENST00000699601.1:c.*1847C=	ENSP00000514470.1:n.*1847C=
ENST00000699602.1:c.3466C=	ENSP00000514471.1:p.Arg1156=
ENST00000699604.1:c.*3296C=	ENSP00000514472.1:n.*3296C=
ENST00000699605.1:c.3046C=	ENSP00000514473.1:p.Arg1016=
ENST00000685018.1:c.220C=	ENSP00000510194.1:p.Arg74=
ENST00000687278.1:c.1259C=	ENSP00000509593.1:n.1259C=
ENST00000689011.1:c.54C=
ENST00000003084.11:c.3472C= MANE Select	ENSP00000003084.6:p.Arg1158=
ENST00000647720.1:c.1122C=
ENST00000648260.1:c.2254C=	ENSP00000497957.1:p.Arg752=
ENST00000649406.1:c.3289C=	ENSP00000497965.1:p.Arg1097=
ENST00000649781.1:c.3289C=	ENSP00000497203.1:p.Arg1097=
ENST00000003084.10:c.3472C=	ENSP00000003084.6:p.Arg1158=
ENST00000426809.5:c.3382C=	ENSP00000389119.1:p.Arg1128=
ENST00000468795.1:c.297C=
NM_000492.3:c.3472C= , LRG_663t1:c.3472C=	NP_000483.3:p.Arg1158=
XM_011515751.1:c.3562C=	XP_011514053.1:p.Arg1188=
XM_011515752.1:c.3562C=	XP_011514054.1:p.Arg1188=
XM_011515753.1:c.3229C=	XP_011514055.1:p.Arg1077=
XM_011515754.1:c.3229C=	XP_011514056.1:p.Arg1077=
NM_000492.4:c.3472C= MANE Select	NP_000483.3:p.Arg1158=