Canonical Allele Identifier: CA1737398645

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627604A= , CM000669.2:g.117627604A=	GRCh38
NC_000007.13:g.117267658A= , CM000669.1:g.117267658A=	GRCh37
NC_000007.12:g.117054894A=	NCBI36
NG_016465.4:g.166821A= , LRG_663:g.166821A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+34A=	ENSP00000497673.2:n.3517+34A=
ENST00000647978.2:c.*3265A=	ENSP00000497658.1:n.*3265A=
ENST00000649781.2:c.3368A=	ENSP00000497203.1:p.Asn1123=
ENST00000685018.2:c.3551A=	ENSP00000510194.2:p.Asn1184=
ENST00000687278.2:c.*204A=	ENSP00000509593.2:n.*204A=
ENST00000699585.1:c.3517+34A=	ENSP00000514456.1:n.3517+34A=
ENST00000699598.1:c.3551A=	ENSP00000514467.1:p.Asn1184=
ENST00000699599.1:c.3551A=	ENSP00000514468.1:p.Asn1184=
ENST00000699600.1:c.*212A=	ENSP00000514469.1:n.*212A=
ENST00000699601.1:c.*1926A=	ENSP00000514470.1:n.*1926A=
ENST00000699602.1:c.3545A=	ENSP00000514471.1:p.Asn1182=
ENST00000699604.1:c.*3375A=	ENSP00000514472.1:n.*3375A=
ENST00000699605.1:c.3125A=	ENSP00000514473.1:p.Asn1042=
ENST00000685018.1:c.299A=	ENSP00000510194.1:p.Asn100=
ENST00000687278.1:c.1338A=	ENSP00000509593.1:n.1338A=
ENST00000689011.1:c.133A=
ENST00000003084.11:c.3551A= MANE Select	ENSP00000003084.6:p.Asn1184=
ENST00000647720.1:c.1167+34A=
ENST00000648260.1:c.2333A=	ENSP00000497957.1:p.Asn778=
ENST00000649406.1:c.3368A=	ENSP00000497965.1:p.Asn1123=
ENST00000649781.1:c.3368A=	ENSP00000497203.1:p.Asn1123=
ENST00000003084.10:c.3551A=	ENSP00000003084.6:p.Asn1184=
ENST00000426809.5:c.3461A=	ENSP00000389119.1:p.Asn1154=
ENST00000468795.1:c.376A=
NM_000492.3:c.3551A= , LRG_663t1:c.3551A=	NP_000483.3:p.Asn1184=
XM_011515751.1:c.3641A=	XP_011514053.1:p.Asn1214=
XM_011515752.1:c.3641A=	XP_011514054.1:p.Asn1214=
XM_011515753.1:c.3308A=	XP_011514055.1:p.Asn1103=
XM_011515754.1:c.3308A=	XP_011514056.1:p.Asn1103=
NM_000492.4:c.3551A= MANE Select	NP_000483.3:p.Asn1184=