Canonical Allele Identifier: CA1737392139

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614667G= , CM000669.2:g.117614667G=	GRCh38
NC_000007.13:g.117254721G= , CM000669.1:g.117254721G=	GRCh37
NC_000007.12:g.117041957G=	NCBI36
NG_016465.4:g.153884G= , LRG_663:g.153884G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3422G=	ENSP00000497673.2:p.Ser1141=
ENST00000647978.2:c.*3136G=	ENSP00000497658.1:n.*3136G=
ENST00000649781.2:c.3239G=	ENSP00000497203.1:p.Ser1080=
ENST00000685018.2:c.3422G=	ENSP00000510194.2:p.Ser1141=
ENST00000687278.2:c.3422G=	ENSP00000509593.2:p.Ser1141=
ENST00000699585.1:c.3422G=	ENSP00000514456.1:p.Ser1141=
ENST00000699598.1:c.3422G=	ENSP00000514467.1:p.Ser1141=
ENST00000699599.1:c.3422G=	ENSP00000514468.1:p.Ser1141=
ENST00000699600.1:c.3422G=	ENSP00000514469.1:p.Ser1141=
ENST00000699601.1:c.*1797G=	ENSP00000514470.1:n.*1797G=
ENST00000699602.1:c.3416G=	ENSP00000514471.1:p.Ser1139=
ENST00000699604.1:c.*3246G=	ENSP00000514472.1:n.*3246G=
ENST00000699605.1:c.2996G=	ENSP00000514473.1:p.Ser999=
ENST00000685018.1:c.170G=	ENSP00000510194.1:p.Ser57=
ENST00000687278.1:c.1013G=	ENSP00000509593.1:p.Ser338=
ENST00000689011.1:c.4G=
ENST00000003084.11:c.3422G= MANE Select	ENSP00000003084.6:p.Ser1141=
ENST00000647720.1:c.1072G=
ENST00000648260.1:c.2204G=	ENSP00000497957.1:p.Ser735=
ENST00000649406.1:c.3239G=	ENSP00000497965.1:p.Ser1080=
ENST00000649781.1:c.3239G=	ENSP00000497203.1:p.Ser1080=
ENST00000003084.10:c.3422G=	ENSP00000003084.6:p.Ser1141=
ENST00000426809.5:c.3332G=	ENSP00000389119.1:p.Ser1111=
ENST00000468795.1:c.247G=
NM_000492.3:c.3422G= , LRG_663t1:c.3422G=	NP_000483.3:p.Ser1141=
XM_011515751.1:c.3512G=	XP_011514053.1:p.Ser1171=
XM_011515752.1:c.3512G=	XP_011514054.1:p.Ser1171=
XM_011515753.1:c.3179G=	XP_011514055.1:p.Ser1060=
XM_011515754.1:c.3179G=	XP_011514056.1:p.Ser1060=
NM_000492.4:c.3422G= MANE Select	NP_000483.3:p.Ser1141=