Canonical Allele Identifier: CA457228531

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282644A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642590A>T , CM000669.2:g.117642590A>T	GRCh38
NC_000007.13:g.117282644A>T , CM000669.1:g.117282644A>T	GRCh37
NC_000007.12:g.117069880A>T	NCBI36
NG_016465.4:g.181807A>T , LRG_663:g.181807A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*79A>T	ENSP00000497673.2:n.*79A>T
ENST00000647978.2:c.*3584A>T	ENSP00000497658.1:n.*3584A>T
ENST00000649781.2:c.3687A>T	ENSP00000497203.1:p.Pro1229=
ENST00000685018.2:c.3870A>T	ENSP00000510194.2:p.Pro1290=
ENST00000687278.2:c.*523A>T	ENSP00000509593.2:n.*523A>T
ENST00000699585.1:c.*79A>T	ENSP00000514456.1:n.*79A>T
ENST00000699598.1:c.3870A>T	ENSP00000514467.1:p.Pro1290=
ENST00000699599.1:c.3870A>T	ENSP00000514468.1:p.Pro1290=
ENST00000699600.1:c.*531A>T	ENSP00000514469.1:n.*531A>T
ENST00000699601.1:c.*2245A>T	ENSP00000514470.1:n.*2245A>T
ENST00000699602.1:c.3864A>T	ENSP00000514471.1:p.Pro1288=
ENST00000699604.1:c.*3694A>T	ENSP00000514472.1:n.*3694A>T
ENST00000699605.1:c.3444A>T	ENSP00000514473.1:p.Pro1148=
ENST00000685018.1:c.618A>T	ENSP00000510194.1:p.Pro206=
ENST00000687278.1:c.1657A>T	ENSP00000509593.1:n.1657A>T
ENST00000689011.1:c.452A>T
ENST00000003084.11:c.3870A>T MANE Select	ENSP00000003084.6:p.Pro1290=
ENST00000647720.1:c.1320A>T
ENST00000649781.1:c.3687A>T	ENSP00000497203.1:p.Pro1229=
ENST00000003084.10:c.3870A>T	ENSP00000003084.6:p.Pro1290=
ENST00000426809.5:c.3780A>T	ENSP00000389119.1:p.Pro1260=
NM_000492.3:c.3870A>T , LRG_663t1:c.3870A>T	NP_000483.3:p.Pro1290=
XM_011515751.1:c.3960A>T	XP_011514053.1:p.Pro1320=
XM_011515752.1:c.3960A>T	XP_011514054.1:p.Pro1320=
XM_011515753.1:c.3627A>T	XP_011514055.1:p.Pro1209=
XM_011515754.1:c.3627A>T	XP_011514056.1:p.Pro1209=
NM_000492.4:c.3870A>T MANE Select	NP_000483.3:p.Pro1290=