Canonical Allele Identifier: CA1737398644

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627602G= , CM000669.2:g.117627602G=	GRCh38
NC_000007.13:g.117267656G= , CM000669.1:g.117267656G=	GRCh37
NC_000007.12:g.117054892G=	NCBI36
NG_016465.4:g.166819G= , LRG_663:g.166819G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+32G=	ENSP00000497673.2:n.3517+32G=
ENST00000647978.2:c.*3263G=	ENSP00000497658.1:n.*3263G=
ENST00000649781.2:c.3366G=	ENSP00000497203.1:p.Lys1122=
ENST00000685018.2:c.3549G=	ENSP00000510194.2:p.Lys1183=
ENST00000687278.2:c.*202G=	ENSP00000509593.2:n.*202G=
ENST00000699585.1:c.3517+32G=	ENSP00000514456.1:n.3517+32G=
ENST00000699598.1:c.3549G=	ENSP00000514467.1:p.Lys1183=
ENST00000699599.1:c.3549G=	ENSP00000514468.1:p.Lys1183=
ENST00000699600.1:c.*210G=	ENSP00000514469.1:n.*210G=
ENST00000699601.1:c.*1924G=	ENSP00000514470.1:n.*1924G=
ENST00000699602.1:c.3543G=	ENSP00000514471.1:p.Lys1181=
ENST00000699604.1:c.*3373G=	ENSP00000514472.1:n.*3373G=
ENST00000699605.1:c.3123G=	ENSP00000514473.1:p.Lys1041=
ENST00000685018.1:c.297G=	ENSP00000510194.1:p.Lys99=
ENST00000687278.1:c.1336G=	ENSP00000509593.1:n.1336G=
ENST00000689011.1:c.131G=
ENST00000003084.11:c.3549G= MANE Select	ENSP00000003084.6:p.Lys1183=
ENST00000647720.1:c.1167+32G=
ENST00000648260.1:c.2331G=	ENSP00000497957.1:p.Lys777=
ENST00000649406.1:c.3366G=	ENSP00000497965.1:p.Lys1122=
ENST00000649781.1:c.3366G=	ENSP00000497203.1:p.Lys1122=
ENST00000003084.10:c.3549G=	ENSP00000003084.6:p.Lys1183=
ENST00000426809.5:c.3459G=	ENSP00000389119.1:p.Lys1153=
ENST00000468795.1:c.374G=
NM_000492.3:c.3549G= , LRG_663t1:c.3549G=	NP_000483.3:p.Lys1183=
XM_011515751.1:c.3639G=	XP_011514053.1:p.Lys1213=
XM_011515752.1:c.3639G=	XP_011514054.1:p.Lys1213=
XM_011515753.1:c.3306G=	XP_011514055.1:p.Lys1102=
XM_011515754.1:c.3306G=	XP_011514056.1:p.Lys1102=
NM_000492.4:c.3549G= MANE Select	NP_000483.3:p.Lys1183=