Canonical Allele Identifier: CA1737379459

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606681T= , CM000669.2:g.117606681T=	GRCh38
NC_000007.13:g.117246735T= , CM000669.1:g.117246735T=	GRCh37
NC_000007.12:g.117033971T=	NCBI36
NG_016465.4:g.145898T= , LRG_663:g.145898T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2916T=	ENSP00000497673.2:p.Ile972=
ENST00000647978.2:c.*2630T=	ENSP00000497658.1:n.*2630T=
ENST00000649781.2:c.2733T=	ENSP00000497203.1:p.Ile911=
ENST00000685018.2:c.2916T=	ENSP00000510194.2:p.Ile972=
ENST00000687278.2:c.2916T=	ENSP00000509593.2:p.Ile972=
ENST00000699585.1:c.2916T=	ENSP00000514456.1:p.Ile972=
ENST00000699598.1:c.2916T=	ENSP00000514467.1:p.Ile972=
ENST00000699599.1:c.2916T=	ENSP00000514468.1:p.Ile972=
ENST00000699600.1:c.2916T=	ENSP00000514469.1:p.Ile972=
ENST00000699601.1:c.*1216T=	ENSP00000514470.1:n.*1216T=
ENST00000699602.1:c.2916T=	ENSP00000514471.1:p.Ile972=
ENST00000699604.1:c.*2740T=	ENSP00000514472.1:n.*2740T=
ENST00000699605.1:c.2490T=	ENSP00000514473.1:p.Ile830=
ENST00000687278.1:c.507T=	ENSP00000509593.1:p.Ile169=
ENST00000003084.11:c.2916T= MANE Select	ENSP00000003084.6:p.Ile972=
ENST00000647720.1:c.566T=
ENST00000648260.1:c.1698T=	ENSP00000497957.1:p.Ile566=
ENST00000649406.1:c.2733T=	ENSP00000497965.1:p.Ile911=
ENST00000649781.1:c.2733T=	ENSP00000497203.1:p.Ile911=
ENST00000003084.10:c.2916T=	ENSP00000003084.6:p.Ile972=
ENST00000426809.5:c.2826T=	ENSP00000389119.1:p.Ile942=
NM_000492.3:c.2916T= , LRG_663t1:c.2916T=	NP_000483.3:p.Ile972=
XM_011515751.1:c.3006T=	XP_011514053.1:p.Ile1002=
XM_011515752.1:c.3006T=	XP_011514054.1:p.Ile1002=
XM_011515753.1:c.2673T=	XP_011514055.1:p.Ile891=
XM_011515754.1:c.2673T=	XP_011514056.1:p.Ile891=
NM_000492.4:c.2916T= MANE Select	NP_000483.3:p.Ile972=