Canonical Allele Identifier: CA1737397813

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117594995T= , CM000669.2:g.117594995T=	GRCh38
NC_000007.13:g.117235049T= , CM000669.1:g.117235049T=	GRCh37
NC_000007.12:g.117022285T=	NCBI36
NG_016465.4:g.134212T= , LRG_663:g.134212T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2556T=	ENSP00000497673.2:p.Tyr852=
ENST00000647978.2:c.*2270T=	ENSP00000497658.1:n.*2270T=
ENST00000649781.2:c.2373T=	ENSP00000497203.1:p.Tyr791=
ENST00000685018.2:c.2556T=	ENSP00000510194.2:p.Tyr852=
ENST00000687278.2:c.2556T=	ENSP00000509593.2:p.Tyr852=
ENST00000699585.1:c.2556T=	ENSP00000514456.1:p.Tyr852=
ENST00000699598.1:c.2556T=	ENSP00000514467.1:p.Tyr852=
ENST00000699599.1:c.2556T=	ENSP00000514468.1:p.Tyr852=
ENST00000699600.1:c.2556T=	ENSP00000514469.1:p.Tyr852=
ENST00000699601.1:c.*856T=	ENSP00000514470.1:n.*856T=
ENST00000699602.1:c.2556T=	ENSP00000514471.1:p.Tyr852=
ENST00000699604.1:c.*2380T=	ENSP00000514472.1:n.*2380T=
ENST00000699605.1:c.2130T=	ENSP00000514473.1:p.Tyr710=
ENST00000687278.1:c.147T=	ENSP00000509593.1:p.Tyr49=
ENST00000003084.11:c.2556T= MANE Select	ENSP00000003084.6:p.Tyr852=
ENST00000647720.1:c.206T=
ENST00000648260.1:c.1402-7831T=	ENSP00000497957.1:n.1402-7831T=
ENST00000649406.1:c.2373T=	ENSP00000497965.1:p.Tyr791=
ENST00000649781.1:c.2373T=	ENSP00000497203.1:p.Tyr791=
ENST00000003084.10:c.2556T=	ENSP00000003084.6:p.Tyr852=
ENST00000426809.5:c.2466T=	ENSP00000389119.1:p.Tyr822=
NM_000492.3:c.2556T= , LRG_663t1:c.2556T=	NP_000483.3:p.Tyr852=
XM_011515751.1:c.2646T=	XP_011514053.1:p.Tyr882=
XM_011515752.1:c.2646T=	XP_011514054.1:p.Tyr882=
XM_011515753.1:c.2313T=	XP_011514055.1:p.Tyr771=
XM_011515754.1:c.2313T=	XP_011514056.1:p.Tyr771=
NM_000492.4:c.2556T= MANE Select	NP_000483.3:p.Tyr852=