Canonical Allele Identifier: CA327112

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611698C>T , CM000669.2:g.117611698C>T	GRCh38
NC_000007.13:g.117251752C>T , CM000669.1:g.117251752C>T	GRCh37
NC_000007.12:g.117038988C>T	NCBI36
NG_016465.4:g.150915C>T , LRG_663:g.150915C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3257C>T MANE Select	NP_000483.3:p.Thr1086Ile
ENST00000003084.11:c.3257C>T MANE Select	ENSP00000003084.6:p.Thr1086Ile
NM_000492.3:c.3257C>T , LRG_663t1:c.3257C>T	NP_000483.3:p.Thr1086Ile
ENST00000003084.10:c.3257C>T	ENSP00000003084.6:p.Thr1086Ile
ENST00000426809.5:c.3167C>T	ENSP00000389119.1:p.Thr1056Ile
ENST00000468795.1:c.82C>T
ENST00000647720.1:c.907C>T
ENST00000647720.2:c.3257C>T	ENSP00000497673.2:p.Thr1086Ile
ENST00000647978.2:c.*2971C>T	ENSP00000497658.1:n.*2971C>T
ENST00000648260.1:c.2039C>T	ENSP00000497957.1:p.Thr680Ile
ENST00000649406.1:c.3074C>T	ENSP00000497965.1:p.Thr1025Ile
ENST00000649781.1:c.3074C>T	ENSP00000497203.1:p.Thr1025Ile
ENST00000649781.2:c.3074C>T	ENSP00000497203.1:p.Thr1025Ile
ENST00000685018.1:c.5C>T	ENSP00000510194.1:p.Thr2Ile
ENST00000685018.2:c.3257C>T	ENSP00000510194.2:p.Thr1086Ile
ENST00000687278.1:c.848C>T	ENSP00000509593.1:p.Thr283Ile
ENST00000687278.2:c.3257C>T	ENSP00000509593.2:p.Thr1086Ile
ENST00000699585.1:c.3257C>T	ENSP00000514456.1:p.Thr1086Ile
ENST00000699598.1:c.3257C>T	ENSP00000514467.1:p.Thr1086Ile
ENST00000699599.1:c.3257C>T	ENSP00000514468.1:p.Thr1086Ile
ENST00000699600.1:c.3257C>T	ENSP00000514469.1:p.Thr1086Ile
ENST00000699601.1:c.*1557C>T	ENSP00000514470.1:n.*1557C>T
ENST00000699602.1:c.3257C>T	ENSP00000514471.1:p.Thr1086Ile
ENST00000699604.1:c.*3081C>T	ENSP00000514472.1:n.*3081C>T
ENST00000699605.1:c.2831C>T	ENSP00000514473.1:p.Thr944Ile
XM_011515751.1:c.3347C>T	XP_011514053.1:p.Thr1116Ile
XM_011515752.1:c.3347C>T	XP_011514054.1:p.Thr1116Ile
XM_011515753.1:c.3014C>T	XP_011514055.1:p.Thr1005Ile
XM_011515754.1:c.3014C>T	XP_011514056.1:p.Thr1005Ile