Canonical Allele Identifier: CA328113

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611751G>T , CM000669.2:g.117611751G>T	GRCh38
NC_000007.13:g.117251805G>T , CM000669.1:g.117251805G>T	GRCh37
NC_000007.12:g.117039041G>T	NCBI36
NG_016465.4:g.150968G>T , LRG_663:g.150968G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3310G>T MANE Select	NP_000483.3:p.Glu1104Ter
ENST00000003084.11:c.3310G>T MANE Select	ENSP00000003084.6:p.Glu1104Ter
NM_000492.3:c.3310G>T , LRG_663t1:c.3310G>T	NP_000483.3:p.Glu1104Ter
ENST00000003084.10:c.3310G>T	ENSP00000003084.6:p.Glu1104Ter
ENST00000426809.5:c.3220G>T	ENSP00000389119.1:p.Glu1074Ter
ENST00000468795.1:c.135G>T
ENST00000647720.1:c.960G>T
ENST00000647720.2:c.3310G>T	ENSP00000497673.2:p.Glu1104Ter
ENST00000647978.2:c.*3024G>T	ENSP00000497658.1:n.*3024G>T
ENST00000648260.1:c.2092G>T	ENSP00000497957.1:p.Glu698Ter
ENST00000649406.1:c.3127G>T	ENSP00000497965.1:p.Glu1043Ter
ENST00000649781.1:c.3127G>T	ENSP00000497203.1:p.Glu1043Ter
ENST00000649781.2:c.3127G>T	ENSP00000497203.1:p.Glu1043Ter
ENST00000685018.1:c.58G>T	ENSP00000510194.1:p.Glu20Ter
ENST00000685018.2:c.3310G>T	ENSP00000510194.2:p.Glu1104Ter
ENST00000687278.1:c.901G>T	ENSP00000509593.1:p.Glu301Ter
ENST00000687278.2:c.3310G>T	ENSP00000509593.2:p.Glu1104Ter
ENST00000699585.1:c.3310G>T	ENSP00000514456.1:p.Glu1104Ter
ENST00000699598.1:c.3310G>T	ENSP00000514467.1:p.Glu1104Ter
ENST00000699599.1:c.3310G>T	ENSP00000514468.1:p.Glu1104Ter
ENST00000699600.1:c.3310G>T	ENSP00000514469.1:p.Glu1104Ter
ENST00000699601.1:c.*1610G>T	ENSP00000514470.1:n.*1610G>T
ENST00000699602.1:c.3310G>T	ENSP00000514471.1:p.Glu1104Ter
ENST00000699604.1:c.*3134G>T	ENSP00000514472.1:n.*3134G>T
ENST00000699605.1:c.2884G>T	ENSP00000514473.1:p.Glu962Ter
XM_011515751.1:c.3400G>T	XP_011514053.1:p.Glu1134Ter
XM_011515752.1:c.3400G>T	XP_011514054.1:p.Glu1134Ter
XM_011515753.1:c.3067G>T	XP_011514055.1:p.Glu1023Ter
XM_011515754.1:c.3067G>T	XP_011514056.1:p.Glu1023Ter