Canonical Allele Identifier: CA3146045903

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664810T= , CM000669.2:g.117664810T=	GRCh38
NC_000007.13:g.117304864T= , CM000669.1:g.117304864T=	GRCh37
NC_000007.12:g.117092100T=	NCBI36
NG_016465.4:g.204027T= , LRG_663:g.204027T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.4086T= MANE Select	NP_000483.3:p.Ser1362=
ENST00000003084.11:c.4086T= MANE Select	ENSP00000003084.6:p.Ser1362=
NM_000492.3:c.4086T= , LRG_663t1:c.4086T=	NP_000483.3:p.Ser1362=
ENST00000003084.10:c.4086T=	ENSP00000003084.6:p.Ser1362=
ENST00000426809.5:c.3996T=	ENSP00000389119.1:p.Ser1332=
ENST00000600166.1:c.212T=
ENST00000647720.1:c.1536T=
ENST00000647720.2:c.*295T=	ENSP00000497673.2:n.*295T=
ENST00000647978.2:c.*3800T=	ENSP00000497658.1:n.*3800T=
ENST00000649781.1:c.3903T=	ENSP00000497203.1:p.Ser1301=
ENST00000649781.2:c.3903T=	ENSP00000497203.1:p.Ser1301=
ENST00000685018.1:c.950T=	ENSP00000510194.1:n.950T=
ENST00000685018.2:c.*299T=	ENSP00000510194.2:n.*299T=
ENST00000687278.1:c.1873T=	ENSP00000509593.1:n.1873T=
ENST00000687278.2:c.*739T=	ENSP00000509593.2:n.*739T=
ENST00000689011.1:c.668T=
ENST00000699585.1:c.*295T=	ENSP00000514456.1:n.*295T=
ENST00000699598.1:c.4086T=	ENSP00000514467.1:p.Ser1362=
ENST00000699599.1:c.*299T=	ENSP00000514468.1:n.*299T=
ENST00000699600.1:c.*747T=	ENSP00000514469.1:n.*747T=
ENST00000699601.1:c.*2461T=	ENSP00000514470.1:n.*2461T=
ENST00000699602.1:c.4080T=	ENSP00000514471.1:p.Ser1360=
ENST00000699604.1:c.*3910T=	ENSP00000514472.1:n.*3910T=
ENST00000699605.1:c.3660T=	ENSP00000514473.1:p.Ser1220=
ENST00000699606.1:n.2254T=
XM_011515751.1:c.4176T=	XP_011514053.1:p.Ser1392=
XM_011515752.1:c.4176T=	XP_011514054.1:p.Ser1392=
XM_011515753.1:c.3843T=	XP_011514055.1:p.Ser1281=
XM_011515754.1:c.3843T=	XP_011514056.1:p.Ser1281=