Canonical Allele Identifier: CA1737392243

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614695C= , CM000669.2:g.117614695C=	GRCh38
NC_000007.13:g.117254749C= , CM000669.1:g.117254749C=	GRCh37
NC_000007.12:g.117041985C=	NCBI36
NG_016465.4:g.153912C= , LRG_663:g.153912C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3450C=	ENSP00000497673.2:p.Ser1150=
ENST00000647978.2:c.*3164C=	ENSP00000497658.1:n.*3164C=
ENST00000649781.2:c.3267C=	ENSP00000497203.1:p.Ser1089=
ENST00000685018.2:c.3450C=	ENSP00000510194.2:p.Ser1150=
ENST00000687278.2:c.3450C=	ENSP00000509593.2:p.Ser1150=
ENST00000699585.1:c.3450C=	ENSP00000514456.1:p.Ser1150=
ENST00000699598.1:c.3450C=	ENSP00000514467.1:p.Ser1150=
ENST00000699599.1:c.3450C=	ENSP00000514468.1:p.Ser1150=
ENST00000699600.1:c.3450C=	ENSP00000514469.1:p.Ser1150=
ENST00000699601.1:c.*1825C=	ENSP00000514470.1:n.*1825C=
ENST00000699602.1:c.3444C=	ENSP00000514471.1:p.Ser1148=
ENST00000699604.1:c.*3274C=	ENSP00000514472.1:n.*3274C=
ENST00000699605.1:c.3024C=	ENSP00000514473.1:p.Ser1008=
ENST00000685018.1:c.198C=	ENSP00000510194.1:p.Ser66=
ENST00000687278.1:c.1041C=	ENSP00000509593.1:p.Ser347=
ENST00000689011.1:c.32C=
ENST00000003084.11:c.3450C= MANE Select	ENSP00000003084.6:p.Ser1150=
ENST00000647720.1:c.1100C=
ENST00000648260.1:c.2232C=	ENSP00000497957.1:p.Ser744=
ENST00000649406.1:c.3267C=	ENSP00000497965.1:p.Ser1089=
ENST00000649781.1:c.3267C=	ENSP00000497203.1:p.Ser1089=
ENST00000003084.10:c.3450C=	ENSP00000003084.6:p.Ser1150=
ENST00000426809.5:c.3360C=	ENSP00000389119.1:p.Ser1120=
ENST00000468795.1:c.275C=
NM_000492.3:c.3450C= , LRG_663t1:c.3450C=	NP_000483.3:p.Ser1150=
XM_011515751.1:c.3540C=	XP_011514053.1:p.Ser1180=
XM_011515752.1:c.3540C=	XP_011514054.1:p.Ser1180=
XM_011515753.1:c.3207C=	XP_011514055.1:p.Ser1069=
XM_011515754.1:c.3207C=	XP_011514056.1:p.Ser1069=
NM_000492.4:c.3450C= MANE Select	NP_000483.3:p.Ser1150=