Canonical Allele Identifier: CA1737398650

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627612C= , CM000669.2:g.117627612C=	GRCh38
NC_000007.13:g.117267666C= , CM000669.1:g.117267666C=	GRCh37
NC_000007.12:g.117054902C=	NCBI36
NG_016465.4:g.166829C= , LRG_663:g.166829C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+42C=	ENSP00000497673.2:n.3517+42C=
ENST00000647978.2:c.*3273C=	ENSP00000497658.1:n.*3273C=
ENST00000649781.2:c.3376C=	ENSP00000497203.1:p.Leu1126=
ENST00000685018.2:c.3559C=	ENSP00000510194.2:p.Leu1187=
ENST00000687278.2:c.*212C=	ENSP00000509593.2:n.*212C=
ENST00000699585.1:c.3517+42C=	ENSP00000514456.1:n.3517+42C=
ENST00000699598.1:c.3559C=	ENSP00000514467.1:p.Leu1187=
ENST00000699599.1:c.3559C=	ENSP00000514468.1:p.Leu1187=
ENST00000699600.1:c.*220C=	ENSP00000514469.1:n.*220C=
ENST00000699601.1:c.*1934C=	ENSP00000514470.1:n.*1934C=
ENST00000699602.1:c.3553C=	ENSP00000514471.1:p.Leu1185=
ENST00000699604.1:c.*3383C=	ENSP00000514472.1:n.*3383C=
ENST00000699605.1:c.3133C=	ENSP00000514473.1:p.Leu1045=
ENST00000685018.1:c.307C=	ENSP00000510194.1:p.Leu103=
ENST00000687278.1:c.1346C=	ENSP00000509593.1:n.1346C=
ENST00000689011.1:c.141C=
ENST00000003084.11:c.3559C= MANE Select	ENSP00000003084.6:p.Leu1187=
ENST00000647720.1:c.1167+42C=
ENST00000648260.1:c.2341C=	ENSP00000497957.1:p.Leu781=
ENST00000649406.1:c.3376C=	ENSP00000497965.1:p.Leu1126=
ENST00000649781.1:c.3376C=	ENSP00000497203.1:p.Leu1126=
ENST00000003084.10:c.3559C=	ENSP00000003084.6:p.Leu1187=
ENST00000426809.5:c.3469C=	ENSP00000389119.1:p.Leu1157=
ENST00000468795.1:c.384C=
NM_000492.3:c.3559C= , LRG_663t1:c.3559C=	NP_000483.3:p.Leu1187=
XM_011515751.1:c.3649C=	XP_011514053.1:p.Leu1217=
XM_011515752.1:c.3649C=	XP_011514054.1:p.Leu1217=
XM_011515753.1:c.3316C=	XP_011514055.1:p.Leu1106=
XM_011515754.1:c.3316C=	XP_011514056.1:p.Leu1106=
NM_000492.4:c.3559C= MANE Select	NP_000483.3:p.Leu1187=