Canonical Allele Identifier: CA368982271

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304800A>T (hg19) ; chr7:g.117664746A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664746A>T , CM000669.2:g.117664746A>T	GRCh38
NC_000007.13:g.117304800A>T , CM000669.1:g.117304800A>T	GRCh37
NC_000007.12:g.117092036A>T	NCBI36
NG_016465.4:g.203963A>T , LRG_663:g.203963A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*231A>T	ENSP00000497673.2:n.*231A>T
ENST00000647978.2:c.*3736A>T	ENSP00000497658.1:n.*3736A>T
ENST00000649781.2:c.3839A>T	ENSP00000497203.1:p.Asp1280Val
ENST00000685018.2:c.*235A>T	ENSP00000510194.2:n.*235A>T
ENST00000687278.2:c.*675A>T	ENSP00000509593.2:n.*675A>T
ENST00000699585.1:c.*231A>T	ENSP00000514456.1:n.*231A>T
ENST00000699598.1:c.4022A>T	ENSP00000514467.1:p.Asp1341Val
ENST00000699599.1:c.*235A>T	ENSP00000514468.1:n.*235A>T
ENST00000699600.1:c.*683A>T	ENSP00000514469.1:n.*683A>T
ENST00000699601.1:c.*2397A>T	ENSP00000514470.1:n.*2397A>T
ENST00000699602.1:c.4016A>T	ENSP00000514471.1:p.Asp1339Val
ENST00000699604.1:c.*3846A>T	ENSP00000514472.1:n.*3846A>T
ENST00000699605.1:c.3596A>T	ENSP00000514473.1:p.Asp1199Val
ENST00000699606.1:n.2190A>T
ENST00000685018.1:c.886A>T	ENSP00000510194.1:n.886A>T
ENST00000687278.1:c.1809A>T	ENSP00000509593.1:n.1809A>T
ENST00000689011.1:c.604A>T
ENST00000003084.11:c.4022A>T MANE Select	ENSP00000003084.6:p.Asp1341Val
ENST00000647720.1:c.1472A>T
ENST00000649781.1:c.3839A>T	ENSP00000497203.1:p.Asp1280Val
ENST00000003084.10:c.4022A>T	ENSP00000003084.6:p.Asp1341Val
ENST00000426809.5:c.3932A>T	ENSP00000389119.1:p.Asp1311Val
ENST00000600166.1:c.148A>T
NM_000492.3:c.4022A>T , LRG_663t1:c.4022A>T	NP_000483.3:p.Asp1341Val
XM_011515751.1:c.4112A>T	XP_011514053.1:p.Asp1371Val
XM_011515752.1:c.4112A>T	XP_011514054.1:p.Asp1371Val
XM_011515753.1:c.3779A>T	XP_011514055.1:p.Asp1260Val
XM_011515754.1:c.3779A>T	XP_011514056.1:p.Asp1260Val
NM_000492.4:c.4022A>T MANE Select	NP_000483.3:p.Asp1341Val