Canonical Allele Identifier: CA457230806

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305537T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665483T>A , CM000669.2:g.117665483T>A	GRCh38
NC_000007.13:g.117305537T>A , CM000669.1:g.117305537T>A	GRCh37
NC_000007.12:g.117092773T>A	NCBI36
NG_016465.4:g.204700T>A , LRG_663:g.204700T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*370T>A	ENSP00000497673.2:n.*370T>A
ENST00000647978.2:c.*3875T>A	ENSP00000497658.1:n.*3875T>A
ENST00000649781.2:c.3978T>A	ENSP00000497203.1:p.Thr1326=
ENST00000685018.2:c.*374T>A	ENSP00000510194.2:n.*374T>A
ENST00000687278.2:c.*814T>A	ENSP00000509593.2:n.*814T>A
ENST00000699585.1:c.*370T>A	ENSP00000514456.1:n.*370T>A
ENST00000699598.1:c.4161T>A	ENSP00000514467.1:p.Thr1387=
ENST00000699599.1:c.*374T>A	ENSP00000514468.1:n.*374T>A
ENST00000699600.1:c.*822T>A	ENSP00000514469.1:n.*822T>A
ENST00000699601.1:c.*2536T>A	ENSP00000514470.1:n.*2536T>A
ENST00000699602.1:c.4155T>A	ENSP00000514471.1:p.Thr1385=
ENST00000699604.1:c.*3985T>A	ENSP00000514472.1:n.*3985T>A
ENST00000699605.1:c.3735T>A	ENSP00000514473.1:p.Thr1245=
ENST00000699606.1:n.2329T>A
ENST00000685018.1:c.1025T>A	ENSP00000510194.1:n.1025T>A
ENST00000687278.1:c.1948T>A	ENSP00000509593.1:n.1948T>A
ENST00000689011.1:c.743T>A
ENST00000003084.11:c.4161T>A MANE Select	ENSP00000003084.6:p.Thr1387=
ENST00000647720.1:c.1611T>A
ENST00000649781.1:c.3978T>A	ENSP00000497203.1:p.Thr1326=
ENST00000003084.10:c.4161T>A	ENSP00000003084.6:p.Thr1387=
ENST00000426809.5:c.4071T>A	ENSP00000389119.1:p.Thr1357=
ENST00000600166.1:c.287T>A
NM_000492.3:c.4161T>A , LRG_663t1:c.4161T>A	NP_000483.3:p.Thr1387=
XM_011515751.1:c.4251T>A	XP_011514053.1:p.Thr1417=
XM_011515752.1:c.4251T>A	XP_011514054.1:p.Thr1417=
XM_011515753.1:c.3918T>A	XP_011514055.1:p.Thr1306=
XM_011515754.1:c.3918T>A	XP_011514056.1:p.Thr1306=
NM_000492.4:c.4161T>A MANE Select	NP_000483.3:p.Thr1387=