Canonical Allele Identifier: CA1737385132

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610638C= , CM000669.2:g.117610638C=	GRCh38
NC_000007.13:g.117250692C= , CM000669.1:g.117250692C=	GRCh37
NC_000007.12:g.117037928C=	NCBI36
NG_016465.4:g.149855C= , LRG_663:g.149855C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3108C=	ENSP00000497673.2:p.Thr1036=
ENST00000647978.2:c.*2822C=	ENSP00000497658.1:n.*2822C=
ENST00000649781.2:c.2925C=	ENSP00000497203.1:p.Thr975=
ENST00000685018.2:c.3108C=	ENSP00000510194.2:p.Thr1036=
ENST00000687278.2:c.3108C=	ENSP00000509593.2:p.Thr1036=
ENST00000699585.1:c.3108C=	ENSP00000514456.1:p.Thr1036=
ENST00000699598.1:c.3108C=	ENSP00000514467.1:p.Thr1036=
ENST00000699599.1:c.3108C=	ENSP00000514468.1:p.Thr1036=
ENST00000699600.1:c.3108C=	ENSP00000514469.1:p.Thr1036=
ENST00000699601.1:c.*1408C=	ENSP00000514470.1:n.*1408C=
ENST00000699602.1:c.3108C=	ENSP00000514471.1:p.Thr1036=
ENST00000699604.1:c.*2932C=	ENSP00000514472.1:n.*2932C=
ENST00000699605.1:c.2682C=	ENSP00000514473.1:p.Thr894=
ENST00000687278.1:c.699C=	ENSP00000509593.1:p.Thr233=
ENST00000003084.11:c.3108C= MANE Select	ENSP00000003084.6:p.Thr1036=
ENST00000647720.1:c.758C=
ENST00000648260.1:c.1890C=	ENSP00000497957.1:p.Thr630=
ENST00000649406.1:c.2925C=	ENSP00000497965.1:p.Thr975=
ENST00000649781.1:c.2925C=	ENSP00000497203.1:p.Thr975=
ENST00000003084.10:c.3108C=	ENSP00000003084.6:p.Thr1036=
ENST00000426809.5:c.3018C=	ENSP00000389119.1:p.Thr1006=
NM_000492.3:c.3108C= , LRG_663t1:c.3108C=	NP_000483.3:p.Thr1036=
XM_011515751.1:c.3198C=	XP_011514053.1:p.Thr1066=
XM_011515752.1:c.3198C=	XP_011514054.1:p.Thr1066=
XM_011515753.1:c.2865C=	XP_011514055.1:p.Thr955=
XM_011515754.1:c.2865C=	XP_011514056.1:p.Thr955=
NM_000492.4:c.3108C= MANE Select	NP_000483.3:p.Thr1036=