Canonical Allele Identifier: CA1737375541

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603769C= , CM000669.2:g.117603769C=	GRCh38
NC_000007.13:g.117243823C= , CM000669.1:g.117243823C=	GRCh37
NC_000007.12:g.117031059C=	NCBI36
NG_016465.4:g.142986C= , LRG_663:g.142986C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2895C=	ENSP00000497673.2:p.Asn965=
ENST00000647978.2:c.*2609C=	ENSP00000497658.1:n.*2609C=
ENST00000649781.2:c.2712C=	ENSP00000497203.1:p.Asn904=
ENST00000685018.2:c.2895C=	ENSP00000510194.2:p.Asn965=
ENST00000687278.2:c.2895C=	ENSP00000509593.2:p.Asn965=
ENST00000699585.1:c.2895C=	ENSP00000514456.1:p.Asn965=
ENST00000699598.1:c.2895C=	ENSP00000514467.1:p.Asn965=
ENST00000699599.1:c.2895C=	ENSP00000514468.1:p.Asn965=
ENST00000699600.1:c.2895C=	ENSP00000514469.1:p.Asn965=
ENST00000699601.1:c.*1195C=	ENSP00000514470.1:n.*1195C=
ENST00000699602.1:c.2895C=	ENSP00000514471.1:p.Asn965=
ENST00000699604.1:c.*2719C=	ENSP00000514472.1:n.*2719C=
ENST00000699605.1:c.2469C=	ENSP00000514473.1:p.Asn823=
ENST00000687278.1:c.486C=	ENSP00000509593.1:p.Asn162=
ENST00000003084.11:c.2895C= MANE Select	ENSP00000003084.6:p.Asn965=
ENST00000647720.1:c.545C=
ENST00000648260.1:c.1677C=	ENSP00000497957.1:p.Asn559=
ENST00000649406.1:c.2712C=	ENSP00000497965.1:p.Asn904=
ENST00000649781.1:c.2712C=	ENSP00000497203.1:p.Asn904=
ENST00000003084.10:c.2895C=	ENSP00000003084.6:p.Asn965=
ENST00000426809.5:c.2805C=	ENSP00000389119.1:p.Asn935=
NM_000492.3:c.2895C= , LRG_663t1:c.2895C=	NP_000483.3:p.Asn965=
XM_011515751.1:c.2985C=	XP_011514053.1:p.Asn995=
XM_011515752.1:c.2985C=	XP_011514054.1:p.Asn995=
XM_011515753.1:c.2652C=	XP_011514055.1:p.Asn884=
XM_011515754.1:c.2652C=	XP_011514056.1:p.Asn884=
NM_000492.4:c.2895C= MANE Select	NP_000483.3:p.Asn965=