Canonical Allele Identifier: CA457230765

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305513A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665459A>T , CM000669.2:g.117665459A>T	GRCh38
NC_000007.13:g.117305513A>T , CM000669.1:g.117305513A>T	GRCh37
NC_000007.12:g.117092749A>T	NCBI36
NG_016465.4:g.204676A>T , LRG_663:g.204676A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*346A>T	ENSP00000497673.2:n.*346A>T
ENST00000647978.2:c.*3851A>T	ENSP00000497658.1:n.*3851A>T
ENST00000649781.2:c.3954A>T	ENSP00000497203.1:p.Val1318=
ENST00000685018.2:c.*350A>T	ENSP00000510194.2:n.*350A>T
ENST00000687278.2:c.*790A>T	ENSP00000509593.2:n.*790A>T
ENST00000699585.1:c.*346A>T	ENSP00000514456.1:n.*346A>T
ENST00000699598.1:c.4137A>T	ENSP00000514467.1:p.Val1379=
ENST00000699599.1:c.*350A>T	ENSP00000514468.1:n.*350A>T
ENST00000699600.1:c.*798A>T	ENSP00000514469.1:n.*798A>T
ENST00000699601.1:c.*2512A>T	ENSP00000514470.1:n.*2512A>T
ENST00000699602.1:c.4131A>T	ENSP00000514471.1:p.Val1377=
ENST00000699604.1:c.*3961A>T	ENSP00000514472.1:n.*3961A>T
ENST00000699605.1:c.3711A>T	ENSP00000514473.1:p.Val1237=
ENST00000699606.1:n.2305A>T
ENST00000685018.1:c.1001A>T	ENSP00000510194.1:n.1001A>T
ENST00000687278.1:c.1924A>T	ENSP00000509593.1:n.1924A>T
ENST00000689011.1:c.719A>T
ENST00000003084.11:c.4137A>T MANE Select	ENSP00000003084.6:p.Val1379=
ENST00000647720.1:c.1587A>T
ENST00000649781.1:c.3954A>T	ENSP00000497203.1:p.Val1318=
ENST00000003084.10:c.4137A>T	ENSP00000003084.6:p.Val1379=
ENST00000426809.5:c.4047A>T	ENSP00000389119.1:p.Val1349=
ENST00000600166.1:c.263A>T
NM_000492.3:c.4137A>T , LRG_663t1:c.4137A>T	NP_000483.3:p.Val1379=
XM_011515751.1:c.4227A>T	XP_011514053.1:p.Val1409=
XM_011515752.1:c.4227A>T	XP_011514054.1:p.Val1409=
XM_011515753.1:c.3894A>T	XP_011514055.1:p.Val1298=
XM_011515754.1:c.3894A>T	XP_011514056.1:p.Val1298=
NM_000492.4:c.4137A>T MANE Select	NP_000483.3:p.Val1379=