Canonical Allele Identifier: CA1737384898

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610570T= , CM000669.2:g.117610570T=	GRCh38
NC_000007.13:g.117250624T= , CM000669.1:g.117250624T=	GRCh37
NC_000007.12:g.117037860T=	NCBI36
NG_016465.4:g.149787T= , LRG_663:g.149787T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3040T=	ENSP00000497673.2:p.Tyr1014=
ENST00000647978.2:c.*2754T=	ENSP00000497658.1:n.*2754T=
ENST00000649781.2:c.2857T=	ENSP00000497203.1:p.Tyr953=
ENST00000685018.2:c.3040T=	ENSP00000510194.2:p.Tyr1014=
ENST00000687278.2:c.3040T=	ENSP00000509593.2:p.Tyr1014=
ENST00000699585.1:c.3040T=	ENSP00000514456.1:p.Tyr1014=
ENST00000699598.1:c.3040T=	ENSP00000514467.1:p.Tyr1014=
ENST00000699599.1:c.3040T=	ENSP00000514468.1:p.Tyr1014=
ENST00000699600.1:c.3040T=	ENSP00000514469.1:p.Tyr1014=
ENST00000699601.1:c.*1340T=	ENSP00000514470.1:n.*1340T=
ENST00000699602.1:c.3040T=	ENSP00000514471.1:p.Tyr1014=
ENST00000699604.1:c.*2864T=	ENSP00000514472.1:n.*2864T=
ENST00000699605.1:c.2614T=	ENSP00000514473.1:p.Tyr872=
ENST00000687278.1:c.631T=	ENSP00000509593.1:p.Tyr211=
ENST00000003084.11:c.3040T= MANE Select	ENSP00000003084.6:p.Tyr1014=
ENST00000647720.1:c.690T=
ENST00000648260.1:c.1822T=	ENSP00000497957.1:p.Tyr608=
ENST00000649406.1:c.2857T=	ENSP00000497965.1:p.Tyr953=
ENST00000649781.1:c.2857T=	ENSP00000497203.1:p.Tyr953=
ENST00000003084.10:c.3040T=	ENSP00000003084.6:p.Tyr1014=
ENST00000426809.5:c.2950T=	ENSP00000389119.1:p.Tyr984=
NM_000492.3:c.3040T= , LRG_663t1:c.3040T=	NP_000483.3:p.Tyr1014=
XM_011515751.1:c.3130T=	XP_011514053.1:p.Tyr1044=
XM_011515752.1:c.3130T=	XP_011514054.1:p.Tyr1044=
XM_011515753.1:c.2797T=	XP_011514055.1:p.Tyr933=
XM_011515754.1:c.2797T=	XP_011514056.1:p.Tyr933=
NM_000492.4:c.3040T= MANE Select	NP_000483.3:p.Tyr1014=