Canonical Allele Identifier: CA457229796

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117292919A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652865A>T , CM000669.2:g.117652865A>T	GRCh38
NC_000007.13:g.117292919A>T , CM000669.1:g.117292919A>T	GRCh37
NC_000007.12:g.117080155A>T	NCBI36
NG_016465.4:g.192082A>T , LRG_663:g.192082A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*106A>T	ENSP00000497673.2:n.*106A>T
ENST00000647978.2:c.*3611A>T	ENSP00000497658.1:n.*3611A>T
ENST00000649781.2:c.3714A>T	ENSP00000497203.1:p.Thr1238=
ENST00000685018.2:c.*110A>T	ENSP00000510194.2:n.*110A>T
ENST00000687278.2:c.*550A>T	ENSP00000509593.2:n.*550A>T
ENST00000699585.1:c.*106A>T	ENSP00000514456.1:n.*106A>T
ENST00000699598.1:c.3897A>T	ENSP00000514467.1:p.Thr1299=
ENST00000699599.1:c.*110A>T	ENSP00000514468.1:n.*110A>T
ENST00000699600.1:c.*558A>T	ENSP00000514469.1:n.*558A>T
ENST00000699601.1:c.*2272A>T	ENSP00000514470.1:n.*2272A>T
ENST00000699602.1:c.3891A>T	ENSP00000514471.1:p.Thr1297=
ENST00000699604.1:c.*3721A>T	ENSP00000514472.1:n.*3721A>T
ENST00000699605.1:c.3471A>T	ENSP00000514473.1:p.Thr1157=
ENST00000699606.1:n.2065A>T
ENST00000685018.1:c.761A>T	ENSP00000510194.1:n.761A>T
ENST00000687278.1:c.1684A>T	ENSP00000509593.1:n.1684A>T
ENST00000689011.1:c.479A>T
ENST00000003084.11:c.3897A>T MANE Select	ENSP00000003084.6:p.Thr1299=
ENST00000647720.1:c.1347A>T
ENST00000649781.1:c.3714A>T	ENSP00000497203.1:p.Thr1238=
ENST00000003084.10:c.3897A>T	ENSP00000003084.6:p.Thr1299=
ENST00000426809.5:c.3807A>T	ENSP00000389119.1:p.Thr1269=
ENST00000600166.1:c.23A>T
NM_000492.3:c.3897A>T , LRG_663t1:c.3897A>T	NP_000483.3:p.Thr1299=
XM_011515751.1:c.3987A>T	XP_011514053.1:p.Thr1329=
XM_011515752.1:c.3987A>T	XP_011514054.1:p.Thr1329=
XM_011515753.1:c.3654A>T	XP_011514055.1:p.Thr1218=
XM_011515754.1:c.3654A>T	XP_011514056.1:p.Thr1218=
NM_000492.4:c.3897A>T MANE Select	NP_000483.3:p.Thr1299=