Canonical Allele Identifier: CA457230250

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2742942
• ClinVar RCV Id: RCV003506819
• MyVariant Identifiers: chr7:g.117304744T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664690T>A , CM000669.2:g.117664690T>A	GRCh38
NC_000007.13:g.117304744T>A , CM000669.1:g.117304744T>A	GRCh37
NC_000007.12:g.117091980T>A	NCBI36
NG_016465.4:g.203907T>A , LRG_663:g.203907T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*175T>A	ENSP00000497673.2:n.*175T>A
ENST00000647978.2:c.*3680T>A	ENSP00000497658.1:n.*3680T>A
ENST00000649781.2:c.3783T>A	ENSP00000497203.1:p.Val1261=
ENST00000685018.2:c.*179T>A	ENSP00000510194.2:n.*179T>A
ENST00000687278.2:c.*619T>A	ENSP00000509593.2:n.*619T>A
ENST00000699585.1:c.*175T>A	ENSP00000514456.1:n.*175T>A
ENST00000699598.1:c.3966T>A	ENSP00000514467.1:p.Val1322=
ENST00000699599.1:c.*179T>A	ENSP00000514468.1:n.*179T>A
ENST00000699600.1:c.*627T>A	ENSP00000514469.1:n.*627T>A
ENST00000699601.1:c.*2341T>A	ENSP00000514470.1:n.*2341T>A
ENST00000699602.1:c.3960T>A	ENSP00000514471.1:p.Val1320=
ENST00000699604.1:c.*3790T>A	ENSP00000514472.1:n.*3790T>A
ENST00000699605.1:c.3540T>A	ENSP00000514473.1:p.Val1180=
ENST00000699606.1:n.2134T>A
ENST00000685018.1:c.830T>A	ENSP00000510194.1:n.830T>A
ENST00000687278.1:c.1753T>A	ENSP00000509593.1:n.1753T>A
ENST00000689011.1:c.548T>A
ENST00000003084.11:c.3966T>A MANE Select	ENSP00000003084.6:p.Val1322=
ENST00000647720.1:c.1416T>A
ENST00000649781.1:c.3783T>A	ENSP00000497203.1:p.Val1261=
ENST00000003084.10:c.3966T>A	ENSP00000003084.6:p.Val1322=
ENST00000426809.5:c.3876T>A	ENSP00000389119.1:p.Val1292=
ENST00000600166.1:c.92T>A
NM_000492.3:c.3966T>A , LRG_663t1:c.3966T>A	NP_000483.3:p.Val1322=
XM_011515751.1:c.4056T>A	XP_011514053.1:p.Val1352=
XM_011515752.1:c.4056T>A	XP_011514054.1:p.Val1352=
XM_011515753.1:c.3723T>A	XP_011514055.1:p.Val1241=
XM_011515754.1:c.3723T>A	XP_011514056.1:p.Val1241=
NM_000492.4:c.3966T>A MANE Select	NP_000483.3:p.Val1322=