Canonical Allele Identifier: CA368975100

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1706020
• ClinVar RCV Id: RCV002284550
• MyVariant Identifiers: chr7:g.117282583A>T (hg19) ; chr7:g.117642529A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642529A>T , CM000669.2:g.117642529A>T	GRCh38
NC_000007.13:g.117282583A>T , CM000669.1:g.117282583A>T	GRCh37
NC_000007.12:g.117069819A>T	NCBI36
NG_016465.4:g.181746A>T , LRG_663:g.181746A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*18A>T	ENSP00000497673.2:n.*18A>T
ENST00000647978.2:c.*3523A>T	ENSP00000497658.1:n.*3523A>T
ENST00000649781.2:c.3626A>T	ENSP00000497203.1:p.Asp1209Val
ENST00000685018.2:c.3809A>T	ENSP00000510194.2:p.Asp1270Val
ENST00000687278.2:c.*462A>T	ENSP00000509593.2:n.*462A>T
ENST00000699585.1:c.*18A>T	ENSP00000514456.1:n.*18A>T
ENST00000699598.1:c.3809A>T	ENSP00000514467.1:p.Asp1270Val
ENST00000699599.1:c.3809A>T	ENSP00000514468.1:p.Asp1270Val
ENST00000699600.1:c.*470A>T	ENSP00000514469.1:n.*470A>T
ENST00000699601.1:c.*2184A>T	ENSP00000514470.1:n.*2184A>T
ENST00000699602.1:c.3803A>T	ENSP00000514471.1:p.Asp1268Val
ENST00000699604.1:c.*3633A>T	ENSP00000514472.1:n.*3633A>T
ENST00000699605.1:c.3383A>T	ENSP00000514473.1:p.Asp1128Val
ENST00000685018.1:c.557A>T	ENSP00000510194.1:p.Asp186Val
ENST00000687278.1:c.1596A>T	ENSP00000509593.1:n.1596A>T
ENST00000689011.1:c.391A>T
ENST00000003084.11:c.3809A>T MANE Select	ENSP00000003084.6:p.Asp1270Val
ENST00000647720.1:c.1259A>T
ENST00000649781.1:c.3626A>T	ENSP00000497203.1:p.Asp1209Val
ENST00000003084.10:c.3809A>T	ENSP00000003084.6:p.Asp1270Val
ENST00000426809.5:c.3719A>T	ENSP00000389119.1:p.Asp1240Val
NM_000492.3:c.3809A>T , LRG_663t1:c.3809A>T	NP_000483.3:p.Asp1270Val
XM_011515751.1:c.3899A>T	XP_011514053.1:p.Asp1300Val
XM_011515752.1:c.3899A>T	XP_011514054.1:p.Asp1300Val
XM_011515753.1:c.3566A>T	XP_011514055.1:p.Asp1189Val
XM_011515754.1:c.3566A>T	XP_011514056.1:p.Asp1189Val
NM_000492.4:c.3809A>T MANE Select	NP_000483.3:p.Asp1270Val