Canonical Allele Identifier: CA368983633

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305574T>A (hg19) ; chr7:g.117665520T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665520T>A , CM000669.2:g.117665520T>A	GRCh38
NC_000007.13:g.117305574T>A , CM000669.1:g.117305574T>A	GRCh37
NC_000007.12:g.117092810T>A	NCBI36
NG_016465.4:g.204737T>A , LRG_663:g.204737T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*407T>A	ENSP00000497673.2:n.*407T>A
ENST00000647978.2:c.*3912T>A	ENSP00000497658.1:n.*3912T>A
ENST00000649781.2:c.4015T>A	ENSP00000497203.1:p.Cys1339Ser
ENST00000685018.2:c.*411T>A	ENSP00000510194.2:n.*411T>A
ENST00000687278.2:c.*851T>A	ENSP00000509593.2:n.*851T>A
ENST00000699585.1:c.*407T>A	ENSP00000514456.1:n.*407T>A
ENST00000699598.1:c.4198T>A	ENSP00000514467.1:p.Cys1400Ser
ENST00000699599.1:c.*411T>A	ENSP00000514468.1:n.*411T>A
ENST00000699600.1:c.*859T>A	ENSP00000514469.1:n.*859T>A
ENST00000699601.1:c.*2573T>A	ENSP00000514470.1:n.*2573T>A
ENST00000699602.1:c.4192T>A	ENSP00000514471.1:p.Cys1398Ser
ENST00000699604.1:c.*4022T>A	ENSP00000514472.1:n.*4022T>A
ENST00000699605.1:c.3772T>A	ENSP00000514473.1:p.Cys1258Ser
ENST00000699606.1:n.2366T>A
ENST00000685018.1:c.1062T>A	ENSP00000510194.1:n.1062T>A
ENST00000687278.1:c.1985T>A	ENSP00000509593.1:n.1985T>A
ENST00000689011.1:c.780T>A
ENST00000003084.11:c.4198T>A MANE Select	ENSP00000003084.6:p.Cys1400Ser
ENST00000647720.1:c.1648T>A
ENST00000649781.1:c.4015T>A	ENSP00000497203.1:p.Cys1339Ser
ENST00000003084.10:c.4198T>A	ENSP00000003084.6:p.Cys1400Ser
ENST00000426809.5:c.4108T>A	ENSP00000389119.1:p.Cys1370Ser
ENST00000600166.1:c.324T>A
NM_000492.3:c.4198T>A , LRG_663t1:c.4198T>A	NP_000483.3:p.Cys1400Ser
XM_011515751.1:c.4288T>A	XP_011514053.1:p.Cys1430Ser
XM_011515752.1:c.4288T>A	XP_011514054.1:p.Cys1430Ser
XM_011515753.1:c.3955T>A	XP_011514055.1:p.Cys1319Ser
XM_011515754.1:c.3955T>A	XP_011514056.1:p.Cys1319Ser
NM_000492.4:c.4198T>A MANE Select	NP_000483.3:p.Cys1400Ser