Canonical Allele Identifier: CA368997464

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627735G>T , CM000669.2:g.117627735G>T	GRCh38
NC_000007.13:g.117267789G>T , CM000669.1:g.117267789G>T	GRCh37
NC_000007.12:g.117055025G>T	NCBI36
NG_016465.4:g.166952G>T , LRG_663:g.166952G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3682G>T MANE Select	NP_000483.3:p.Glu1228Ter
ENST00000003084.11:c.3682G>T MANE Select	ENSP00000003084.6:p.Glu1228Ter
NM_000492.3:c.3682G>T , LRG_663t1:c.3682G>T	NP_000483.3:p.Glu1228Ter
ENST00000003084.10:c.3682G>T	ENSP00000003084.6:p.Glu1228Ter
ENST00000426809.5:c.3592G>T	ENSP00000389119.1:p.Glu1198Ter
ENST00000468795.1:c.507G>T
ENST00000647720.1:c.1167+165G>T
ENST00000647720.2:c.3517+165G>T	ENSP00000497673.2:n.3517+165G>T
ENST00000647978.2:c.*3396G>T	ENSP00000497658.1:n.*3396G>T
ENST00000648260.1:c.2464G>T	ENSP00000497957.1:p.Glu822Ter
ENST00000649406.1:c.3499G>T	ENSP00000497965.1:p.Glu1167Ter
ENST00000649781.1:c.3499G>T	ENSP00000497203.1:p.Glu1167Ter
ENST00000649781.2:c.3499G>T	ENSP00000497203.1:p.Glu1167Ter
ENST00000685018.1:c.430G>T	ENSP00000510194.1:p.Glu144Ter
ENST00000685018.2:c.3682G>T	ENSP00000510194.2:p.Glu1228Ter
ENST00000687278.1:c.1469G>T	ENSP00000509593.1:n.1469G>T
ENST00000687278.2:c.*335G>T	ENSP00000509593.2:n.*335G>T
ENST00000689011.1:c.264G>T
ENST00000699585.1:c.3517+165G>T	ENSP00000514456.1:n.3517+165G>T
ENST00000699598.1:c.3682G>T	ENSP00000514467.1:p.Glu1228Ter
ENST00000699599.1:c.3682G>T	ENSP00000514468.1:p.Glu1228Ter
ENST00000699600.1:c.*343G>T	ENSP00000514469.1:n.*343G>T
ENST00000699601.1:c.*2057G>T	ENSP00000514470.1:n.*2057G>T
ENST00000699602.1:c.3676G>T	ENSP00000514471.1:p.Glu1226Ter
ENST00000699604.1:c.*3506G>T	ENSP00000514472.1:n.*3506G>T
ENST00000699605.1:c.3256G>T	ENSP00000514473.1:p.Glu1086Ter
XM_011515751.1:c.3772G>T	XP_011514053.1:p.Glu1258Ter
XM_011515752.1:c.3772G>T	XP_011514054.1:p.Glu1258Ter
XM_011515753.1:c.3439G>T	XP_011514055.1:p.Glu1147Ter
XM_011515754.1:c.3439G>T	XP_011514056.1:p.Glu1147Ter