Canonical Allele Identifier: CA1737398622

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627559T= , CM000669.2:g.117627559T=	GRCh38
NC_000007.13:g.117267613T= , CM000669.1:g.117267613T=	GRCh37
NC_000007.12:g.117054849T=	NCBI36
NG_016465.4:g.166776T= , LRG_663:g.166776T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3506T=	ENSP00000497673.2:p.Met1169=
ENST00000647978.2:c.*3220T=	ENSP00000497658.1:n.*3220T=
ENST00000649781.2:c.3323T=	ENSP00000497203.1:p.Met1108=
ENST00000685018.2:c.3506T=	ENSP00000510194.2:p.Met1169=
ENST00000687278.2:c.*159T=	ENSP00000509593.2:n.*159T=
ENST00000699585.1:c.3506T=	ENSP00000514456.1:p.Met1169=
ENST00000699598.1:c.3506T=	ENSP00000514467.1:p.Met1169=
ENST00000699599.1:c.3506T=	ENSP00000514468.1:p.Met1169=
ENST00000699600.1:c.*167T=	ENSP00000514469.1:n.*167T=
ENST00000699601.1:c.*1881T=	ENSP00000514470.1:n.*1881T=
ENST00000699602.1:c.3500T=	ENSP00000514471.1:p.Met1167=
ENST00000699604.1:c.*3330T=	ENSP00000514472.1:n.*3330T=
ENST00000699605.1:c.3080T=	ENSP00000514473.1:p.Met1027=
ENST00000685018.1:c.254T=	ENSP00000510194.1:p.Met85=
ENST00000687278.1:c.1293T=	ENSP00000509593.1:n.1293T=
ENST00000689011.1:c.88T=
ENST00000003084.11:c.3506T= MANE Select	ENSP00000003084.6:p.Met1169=
ENST00000647720.1:c.1156T=
ENST00000648260.1:c.2288T=	ENSP00000497957.1:p.Met763=
ENST00000649406.1:c.3323T=	ENSP00000497965.1:p.Met1108=
ENST00000649781.1:c.3323T=	ENSP00000497203.1:p.Met1108=
ENST00000003084.10:c.3506T=	ENSP00000003084.6:p.Met1169=
ENST00000426809.5:c.3416T=	ENSP00000389119.1:p.Met1139=
ENST00000468795.1:c.331T=
NM_000492.3:c.3506T= , LRG_663t1:c.3506T=	NP_000483.3:p.Met1169=
XM_011515751.1:c.3596T=	XP_011514053.1:p.Met1199=
XM_011515752.1:c.3596T=	XP_011514054.1:p.Met1199=
XM_011515753.1:c.3263T=	XP_011514055.1:p.Met1088=
XM_011515754.1:c.3263T=	XP_011514056.1:p.Met1088=
NM_000492.4:c.3506T= MANE Select	NP_000483.3:p.Met1169=