Canonical Allele Identifier: CA4451628

Gene: CFTR

Linked Data

• ClinVar Variation Id: 632751
• ClinVar RCV Id: RCV000780133 ; RCV001825522 ; RCV002325481
• dbSNP Id: rs770345073
• ExAC: 7:117304874 A / T
• gnomAD v2: 7-117304874-A-T
• gnomAD v4: 7-117664820-A-T
• MyVariant Identifiers: chr7:g.117304874A>T (hg19) ; chr7:g.117664820A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664820A>T , CM000669.2:g.117664820A>T	GRCh38
NC_000007.13:g.117304874A>T , CM000669.1:g.117304874A>T	GRCh37
NC_000007.12:g.117092110A>T	NCBI36
NG_016465.4:g.204037A>T , LRG_663:g.204037A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*305A>T	ENSP00000497673.2:n.*305A>T
ENST00000647978.2:c.*3810A>T	ENSP00000497658.1:n.*3810A>T
ENST00000649781.2:c.3913A>T	ENSP00000497203.1:p.Ile1305Phe
ENST00000685018.2:c.*309A>T	ENSP00000510194.2:n.*309A>T
ENST00000687278.2:c.*749A>T	ENSP00000509593.2:n.*749A>T
ENST00000699585.1:c.*305A>T	ENSP00000514456.1:n.*305A>T
ENST00000699598.1:c.4096A>T	ENSP00000514467.1:p.Ile1366Phe
ENST00000699599.1:c.*309A>T	ENSP00000514468.1:n.*309A>T
ENST00000699600.1:c.*757A>T	ENSP00000514469.1:n.*757A>T
ENST00000699601.1:c.*2471A>T	ENSP00000514470.1:n.*2471A>T
ENST00000699602.1:c.4090A>T	ENSP00000514471.1:p.Ile1364Phe
ENST00000699604.1:c.*3920A>T	ENSP00000514472.1:n.*3920A>T
ENST00000699605.1:c.3670A>T	ENSP00000514473.1:p.Ile1224Phe
ENST00000699606.1:n.2264A>T
ENST00000685018.1:c.960A>T	ENSP00000510194.1:n.960A>T
ENST00000687278.1:c.1883A>T	ENSP00000509593.1:n.1883A>T
ENST00000689011.1:c.678A>T
ENST00000003084.11:c.4096A>T MANE Select	ENSP00000003084.6:p.Ile1366Phe
ENST00000647720.1:c.1546A>T
ENST00000649781.1:c.3913A>T	ENSP00000497203.1:p.Ile1305Phe
ENST00000003084.10:c.4096A>T	ENSP00000003084.6:p.Ile1366Phe
ENST00000426809.5:c.4006A>T	ENSP00000389119.1:p.Ile1336Phe
ENST00000600166.1:c.222A>T
NM_000492.3:c.4096A>T , LRG_663t1:c.4096A>T	NP_000483.3:p.Ile1366Phe
XM_011515751.1:c.4186A>T	XP_011514053.1:p.Ile1396Phe
XM_011515752.1:c.4186A>T	XP_011514054.1:p.Ile1396Phe
XM_011515753.1:c.3853A>T	XP_011514055.1:p.Ile1285Phe
XM_011515754.1:c.3853A>T	XP_011514056.1:p.Ile1285Phe
NM_000492.4:c.4096A>T MANE Select	NP_000483.3:p.Ile1366Phe