Canonical Allele Identifier: CA368975194

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282594T>A (hg19) ; chr7:g.117642540T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642540T>A , CM000669.2:g.117642540T>A	GRCh38
NC_000007.13:g.117282594T>A , CM000669.1:g.117282594T>A	GRCh37
NC_000007.12:g.117069830T>A	NCBI36
NG_016465.4:g.181757T>A , LRG_663:g.181757T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*29T>A	ENSP00000497673.2:n.*29T>A
ENST00000647978.2:c.*3534T>A	ENSP00000497658.1:n.*3534T>A
ENST00000649781.2:c.3637T>A	ENSP00000497203.1:p.Trp1213Arg
ENST00000685018.2:c.3820T>A	ENSP00000510194.2:p.Trp1274Arg
ENST00000687278.2:c.*473T>A	ENSP00000509593.2:n.*473T>A
ENST00000699585.1:c.*29T>A	ENSP00000514456.1:n.*29T>A
ENST00000699598.1:c.3820T>A	ENSP00000514467.1:p.Trp1274Arg
ENST00000699599.1:c.3820T>A	ENSP00000514468.1:p.Trp1274Arg
ENST00000699600.1:c.*481T>A	ENSP00000514469.1:n.*481T>A
ENST00000699601.1:c.*2195T>A	ENSP00000514470.1:n.*2195T>A
ENST00000699602.1:c.3814T>A	ENSP00000514471.1:p.Trp1272Arg
ENST00000699604.1:c.*3644T>A	ENSP00000514472.1:n.*3644T>A
ENST00000699605.1:c.3394T>A	ENSP00000514473.1:p.Trp1132Arg
ENST00000685018.1:c.568T>A	ENSP00000510194.1:p.Trp190Arg
ENST00000687278.1:c.1607T>A	ENSP00000509593.1:n.1607T>A
ENST00000689011.1:c.402T>A
ENST00000003084.11:c.3820T>A MANE Select	ENSP00000003084.6:p.Trp1274Arg
ENST00000647720.1:c.1270T>A
ENST00000649781.1:c.3637T>A	ENSP00000497203.1:p.Trp1213Arg
ENST00000003084.10:c.3820T>A	ENSP00000003084.6:p.Trp1274Arg
ENST00000426809.5:c.3730T>A	ENSP00000389119.1:p.Trp1244Arg
NM_000492.3:c.3820T>A , LRG_663t1:c.3820T>A	NP_000483.3:p.Trp1274Arg
XM_011515751.1:c.3910T>A	XP_011514053.1:p.Trp1304Arg
XM_011515752.1:c.3910T>A	XP_011514054.1:p.Trp1304Arg
XM_011515753.1:c.3577T>A	XP_011514055.1:p.Trp1193Arg
XM_011515754.1:c.3577T>A	XP_011514056.1:p.Trp1193Arg
NM_000492.4:c.3820T>A MANE Select	NP_000483.3:p.Trp1274Arg