Canonical Allele Identifier: CA1737392024

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614646C= , CM000669.2:g.117614646C=	GRCh38
NC_000007.13:g.117254700C= , CM000669.1:g.117254700C=	GRCh37
NC_000007.12:g.117041936C=	NCBI36
NG_016465.4:g.153863C= , LRG_663:g.153863C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3401C=	ENSP00000497673.2:p.Thr1134=
ENST00000647978.2:c.*3115C=	ENSP00000497658.1:n.*3115C=
ENST00000649781.2:c.3218C=	ENSP00000497203.1:p.Thr1073=
ENST00000685018.2:c.3401C=	ENSP00000510194.2:p.Thr1134=
ENST00000687278.2:c.3401C=	ENSP00000509593.2:p.Thr1134=
ENST00000699585.1:c.3401C=	ENSP00000514456.1:p.Thr1134=
ENST00000699598.1:c.3401C=	ENSP00000514467.1:p.Thr1134=
ENST00000699599.1:c.3401C=	ENSP00000514468.1:p.Thr1134=
ENST00000699600.1:c.3401C=	ENSP00000514469.1:p.Thr1134=
ENST00000699601.1:c.*1776C=	ENSP00000514470.1:n.*1776C=
ENST00000699602.1:c.3395C=	ENSP00000514471.1:p.Thr1132=
ENST00000699604.1:c.*3225C=	ENSP00000514472.1:n.*3225C=
ENST00000699605.1:c.2975C=	ENSP00000514473.1:p.Thr992=
ENST00000685018.1:c.149C=	ENSP00000510194.1:p.Thr50=
ENST00000687278.1:c.992C=	ENSP00000509593.1:p.Thr331=
ENST00000003084.11:c.3401C= MANE Select	ENSP00000003084.6:p.Thr1134=
ENST00000647720.1:c.1051C=
ENST00000648260.1:c.2183C=	ENSP00000497957.1:p.Thr728=
ENST00000649406.1:c.3218C=	ENSP00000497965.1:p.Thr1073=
ENST00000649781.1:c.3218C=	ENSP00000497203.1:p.Thr1073=
ENST00000003084.10:c.3401C=	ENSP00000003084.6:p.Thr1134=
ENST00000426809.5:c.3311C=	ENSP00000389119.1:p.Thr1104=
ENST00000468795.1:c.226C=
NM_000492.3:c.3401C= , LRG_663t1:c.3401C=	NP_000483.3:p.Thr1134=
XM_011515751.1:c.3491C=	XP_011514053.1:p.Thr1164=
XM_011515752.1:c.3491C=	XP_011514054.1:p.Thr1164=
XM_011515753.1:c.3158C=	XP_011514055.1:p.Thr1053=
XM_011515754.1:c.3158C=	XP_011514056.1:p.Thr1053=
NM_000492.4:c.3401C= MANE Select	NP_000483.3:p.Thr1134=