Canonical Allele Identifier: CA1737422103

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664809G= , CM000669.2:g.117664809G=	GRCh38
NC_000007.13:g.117304863G= , CM000669.1:g.117304863G=	GRCh37
NC_000007.12:g.117092099G=	NCBI36
NG_016465.4:g.204026G= , LRG_663:g.204026G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*294G=	ENSP00000497673.2:n.*294G=
ENST00000647978.2:c.*3799G=	ENSP00000497658.1:n.*3799G=
ENST00000649781.2:c.3902G=	ENSP00000497203.1:p.Ser1301=
ENST00000685018.2:c.*298G=	ENSP00000510194.2:n.*298G=
ENST00000687278.2:c.*738G=	ENSP00000509593.2:n.*738G=
ENST00000699585.1:c.*294G=	ENSP00000514456.1:n.*294G=
ENST00000699598.1:c.4085G=	ENSP00000514467.1:p.Ser1362=
ENST00000699599.1:c.*298G=	ENSP00000514468.1:n.*298G=
ENST00000699600.1:c.*746G=	ENSP00000514469.1:n.*746G=
ENST00000699601.1:c.*2460G=	ENSP00000514470.1:n.*2460G=
ENST00000699602.1:c.4079G=	ENSP00000514471.1:p.Ser1360=
ENST00000699604.1:c.*3909G=	ENSP00000514472.1:n.*3909G=
ENST00000699605.1:c.3659G=	ENSP00000514473.1:p.Ser1220=
ENST00000699606.1:n.2253G=
ENST00000685018.1:c.949G=	ENSP00000510194.1:n.949G=
ENST00000687278.1:c.1872G=	ENSP00000509593.1:n.1872G=
ENST00000689011.1:c.667G=
ENST00000003084.11:c.4085G= MANE Select	ENSP00000003084.6:p.Ser1362=
ENST00000647720.1:c.1535G=
ENST00000649781.1:c.3902G=	ENSP00000497203.1:p.Ser1301=
ENST00000003084.10:c.4085G=	ENSP00000003084.6:p.Ser1362=
ENST00000426809.5:c.3995G=	ENSP00000389119.1:p.Ser1332=
ENST00000600166.1:c.211G=
NM_000492.3:c.4085G= , LRG_663t1:c.4085G=	NP_000483.3:p.Ser1362=
XM_011515751.1:c.4175G=	XP_011514053.1:p.Ser1392=
XM_011515752.1:c.4175G=	XP_011514054.1:p.Ser1392=
XM_011515753.1:c.3842G=	XP_011514055.1:p.Ser1281=
XM_011515754.1:c.3842G=	XP_011514056.1:p.Ser1281=
NM_000492.4:c.4085G= MANE Select	NP_000483.3:p.Ser1362=