Canonical Allele Identifier: CA457228502

Gene: CFTR

Linked Data

• COSMIC: COSM3632326
• MyVariant Identifiers: chr7:g.117282638G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642584G>A , CM000669.2:g.117642584G>A	GRCh38
NC_000007.13:g.117282638G>A , CM000669.1:g.117282638G>A	GRCh37
NC_000007.12:g.117069874G>A	NCBI36
NG_016465.4:g.181801G>A , LRG_663:g.181801G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*73G>A	ENSP00000497673.2:n.*73G>A
ENST00000647978.2:c.*3578G>A	ENSP00000497658.1:n.*3578G>A
ENST00000649781.2:c.3681G>A	ENSP00000497203.1:p.Val1227=
ENST00000685018.2:c.3864G>A	ENSP00000510194.2:p.Val1288=
ENST00000687278.2:c.*517G>A	ENSP00000509593.2:n.*517G>A
ENST00000699585.1:c.*73G>A	ENSP00000514456.1:n.*73G>A
ENST00000699598.1:c.3864G>A	ENSP00000514467.1:p.Val1288=
ENST00000699599.1:c.3864G>A	ENSP00000514468.1:p.Val1288=
ENST00000699600.1:c.*525G>A	ENSP00000514469.1:n.*525G>A
ENST00000699601.1:c.*2239G>A	ENSP00000514470.1:n.*2239G>A
ENST00000699602.1:c.3858G>A	ENSP00000514471.1:p.Val1286=
ENST00000699604.1:c.*3688G>A	ENSP00000514472.1:n.*3688G>A
ENST00000699605.1:c.3438G>A	ENSP00000514473.1:p.Val1146=
ENST00000685018.1:c.612G>A	ENSP00000510194.1:p.Val204=
ENST00000687278.1:c.1651G>A	ENSP00000509593.1:n.1651G>A
ENST00000689011.1:c.446G>A
ENST00000003084.11:c.3864G>A MANE Select	ENSP00000003084.6:p.Val1288=
ENST00000647720.1:c.1314G>A
ENST00000649781.1:c.3681G>A	ENSP00000497203.1:p.Val1227=
ENST00000003084.10:c.3864G>A	ENSP00000003084.6:p.Val1288=
ENST00000426809.5:c.3774G>A	ENSP00000389119.1:p.Val1258=
NM_000492.3:c.3864G>A , LRG_663t1:c.3864G>A	NP_000483.3:p.Val1288=
XM_011515751.1:c.3954G>A	XP_011514053.1:p.Val1318=
XM_011515752.1:c.3954G>A	XP_011514054.1:p.Val1318=
XM_011515753.1:c.3621G>A	XP_011514055.1:p.Val1207=
XM_011515754.1:c.3621G>A	XP_011514056.1:p.Val1207=
NM_000492.4:c.3864G>A MANE Select	NP_000483.3:p.Val1288=