Canonical Allele Identifier: CA1737398612

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627542C= , CM000669.2:g.117627542C=	GRCh38
NC_000007.13:g.117267596C= , CM000669.1:g.117267596C=	GRCh37
NC_000007.12:g.117054832C=	NCBI36
NG_016465.4:g.166759C= , LRG_663:g.166759C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3489C=	ENSP00000497673.2:p.Val1163=
ENST00000647978.2:c.*3203C=	ENSP00000497658.1:n.*3203C=
ENST00000649781.2:c.3306C=	ENSP00000497203.1:p.Val1102=
ENST00000685018.2:c.3489C=	ENSP00000510194.2:p.Val1163=
ENST00000687278.2:c.*142C=	ENSP00000509593.2:n.*142C=
ENST00000699585.1:c.3489C=	ENSP00000514456.1:p.Val1163=
ENST00000699598.1:c.3489C=	ENSP00000514467.1:p.Val1163=
ENST00000699599.1:c.3489C=	ENSP00000514468.1:p.Val1163=
ENST00000699600.1:c.*150C=	ENSP00000514469.1:n.*150C=
ENST00000699601.1:c.*1864C=	ENSP00000514470.1:n.*1864C=
ENST00000699602.1:c.3483C=	ENSP00000514471.1:p.Val1161=
ENST00000699604.1:c.*3313C=	ENSP00000514472.1:n.*3313C=
ENST00000699605.1:c.3063C=	ENSP00000514473.1:p.Val1021=
ENST00000685018.1:c.237C=	ENSP00000510194.1:p.Val79=
ENST00000687278.1:c.1276C=	ENSP00000509593.1:n.1276C=
ENST00000689011.1:c.71C=
ENST00000003084.11:c.3489C= MANE Select	ENSP00000003084.6:p.Val1163=
ENST00000647720.1:c.1139C=
ENST00000648260.1:c.2271C=	ENSP00000497957.1:p.Val757=
ENST00000649406.1:c.3306C=	ENSP00000497965.1:p.Val1102=
ENST00000649781.1:c.3306C=	ENSP00000497203.1:p.Val1102=
ENST00000003084.10:c.3489C=	ENSP00000003084.6:p.Val1163=
ENST00000426809.5:c.3399C=	ENSP00000389119.1:p.Val1133=
ENST00000468795.1:c.314C=
NM_000492.3:c.3489C= , LRG_663t1:c.3489C=	NP_000483.3:p.Val1163=
XM_011515751.1:c.3579C=	XP_011514053.1:p.Val1193=
XM_011515752.1:c.3579C=	XP_011514054.1:p.Val1193=
XM_011515753.1:c.3246C=	XP_011514055.1:p.Val1082=
XM_011515754.1:c.3246C=	XP_011514056.1:p.Val1082=
NM_000492.4:c.3489C= MANE Select	NP_000483.3:p.Val1163=