Canonical Allele Identifier: CA1737422099

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664805C= , CM000669.2:g.117664805C=	GRCh38
NC_000007.13:g.117304859C= , CM000669.1:g.117304859C=	GRCh37
NC_000007.12:g.117092095C=	NCBI36
NG_016465.4:g.204022C= , LRG_663:g.204022C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*290C=	ENSP00000497673.2:n.*290C=
ENST00000647978.2:c.*3795C=	ENSP00000497658.1:n.*3795C=
ENST00000649781.2:c.3898C=	ENSP00000497203.1:p.Leu1300=
ENST00000685018.2:c.*294C=	ENSP00000510194.2:n.*294C=
ENST00000687278.2:c.*734C=	ENSP00000509593.2:n.*734C=
ENST00000699585.1:c.*290C=	ENSP00000514456.1:n.*290C=
ENST00000699598.1:c.4081C=	ENSP00000514467.1:p.Leu1361=
ENST00000699599.1:c.*294C=	ENSP00000514468.1:n.*294C=
ENST00000699600.1:c.*742C=	ENSP00000514469.1:n.*742C=
ENST00000699601.1:c.*2456C=	ENSP00000514470.1:n.*2456C=
ENST00000699602.1:c.4075C=	ENSP00000514471.1:p.Leu1359=
ENST00000699604.1:c.*3905C=	ENSP00000514472.1:n.*3905C=
ENST00000699605.1:c.3655C=	ENSP00000514473.1:p.Leu1219=
ENST00000699606.1:n.2249C=
ENST00000685018.1:c.945C=	ENSP00000510194.1:n.945C=
ENST00000687278.1:c.1868C=	ENSP00000509593.1:n.1868C=
ENST00000689011.1:c.663C=
ENST00000003084.11:c.4081C= MANE Select	ENSP00000003084.6:p.Leu1361=
ENST00000647720.1:c.1531C=
ENST00000649781.1:c.3898C=	ENSP00000497203.1:p.Leu1300=
ENST00000003084.10:c.4081C=	ENSP00000003084.6:p.Leu1361=
ENST00000426809.5:c.3991C=	ENSP00000389119.1:p.Leu1331=
ENST00000600166.1:c.207C=
NM_000492.3:c.4081C= , LRG_663t1:c.4081C=	NP_000483.3:p.Leu1361=
XM_011515751.1:c.4171C=	XP_011514053.1:p.Leu1391=
XM_011515752.1:c.4171C=	XP_011514054.1:p.Leu1391=
XM_011515753.1:c.3838C=	XP_011514055.1:p.Leu1280=
XM_011515754.1:c.3838C=	XP_011514056.1:p.Leu1280=
NM_000492.4:c.4081C= MANE Select	NP_000483.3:p.Leu1361=