Canonical Allele Identifier: CA1737391976

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614631T= , CM000669.2:g.117614631T=	GRCh38
NC_000007.13:g.117254685T= , CM000669.1:g.117254685T=	GRCh37
NC_000007.12:g.117041921T=	NCBI36
NG_016465.4:g.153848T= , LRG_663:g.153848T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3386T=	ENSP00000497673.2:p.Val1129=
ENST00000647978.2:c.*3100T=	ENSP00000497658.1:n.*3100T=
ENST00000649781.2:c.3203T=	ENSP00000497203.1:p.Val1068=
ENST00000685018.2:c.3386T=	ENSP00000510194.2:p.Val1129=
ENST00000687278.2:c.3386T=	ENSP00000509593.2:p.Val1129=
ENST00000699585.1:c.3386T=	ENSP00000514456.1:p.Val1129=
ENST00000699598.1:c.3386T=	ENSP00000514467.1:p.Val1129=
ENST00000699599.1:c.3386T=	ENSP00000514468.1:p.Val1129=
ENST00000699600.1:c.3386T=	ENSP00000514469.1:p.Val1129=
ENST00000699601.1:c.*1761T=	ENSP00000514470.1:n.*1761T=
ENST00000699602.1:c.3380T=	ENSP00000514471.1:p.Val1127=
ENST00000699604.1:c.*3210T=	ENSP00000514472.1:n.*3210T=
ENST00000699605.1:c.2960T=	ENSP00000514473.1:p.Val987=
ENST00000685018.1:c.134T=	ENSP00000510194.1:p.Val45=
ENST00000687278.1:c.977T=	ENSP00000509593.1:p.Val326=
ENST00000003084.11:c.3386T= MANE Select	ENSP00000003084.6:p.Val1129=
ENST00000647720.1:c.1036T=
ENST00000648260.1:c.2168T=	ENSP00000497957.1:p.Val723=
ENST00000649406.1:c.3203T=	ENSP00000497965.1:p.Val1068=
ENST00000649781.1:c.3203T=	ENSP00000497203.1:p.Val1068=
ENST00000003084.10:c.3386T=	ENSP00000003084.6:p.Val1129=
ENST00000426809.5:c.3296T=	ENSP00000389119.1:p.Val1099=
ENST00000468795.1:c.211T=
NM_000492.3:c.3386T= , LRG_663t1:c.3386T=	NP_000483.3:p.Val1129=
XM_011515751.1:c.3476T=	XP_011514053.1:p.Val1159=
XM_011515752.1:c.3476T=	XP_011514054.1:p.Val1159=
XM_011515753.1:c.3143T=	XP_011514055.1:p.Val1048=
XM_011515754.1:c.3143T=	XP_011514056.1:p.Val1048=
NM_000492.4:c.3386T= MANE Select	NP_000483.3:p.Val1129=