Canonical Allele Identifier: CA368975555

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282631T>A (hg19) ; chr7:g.117642577T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642577T>A , CM000669.2:g.117642577T>A	GRCh38
NC_000007.13:g.117282631T>A , CM000669.1:g.117282631T>A	GRCh37
NC_000007.12:g.117069867T>A	NCBI36
NG_016465.4:g.181794T>A , LRG_663:g.181794T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*66T>A	ENSP00000497673.2:n.*66T>A
ENST00000647978.2:c.*3571T>A	ENSP00000497658.1:n.*3571T>A
ENST00000649781.2:c.3674T>A	ENSP00000497203.1:p.Phe1225Tyr
ENST00000685018.2:c.3857T>A	ENSP00000510194.2:p.Phe1286Tyr
ENST00000687278.2:c.*510T>A	ENSP00000509593.2:n.*510T>A
ENST00000699585.1:c.*66T>A	ENSP00000514456.1:n.*66T>A
ENST00000699598.1:c.3857T>A	ENSP00000514467.1:p.Phe1286Tyr
ENST00000699599.1:c.3857T>A	ENSP00000514468.1:p.Phe1286Tyr
ENST00000699600.1:c.*518T>A	ENSP00000514469.1:n.*518T>A
ENST00000699601.1:c.*2232T>A	ENSP00000514470.1:n.*2232T>A
ENST00000699602.1:c.3851T>A	ENSP00000514471.1:p.Phe1284Tyr
ENST00000699604.1:c.*3681T>A	ENSP00000514472.1:n.*3681T>A
ENST00000699605.1:c.3431T>A	ENSP00000514473.1:p.Phe1144Tyr
ENST00000685018.1:c.605T>A	ENSP00000510194.1:p.Phe202Tyr
ENST00000687278.1:c.1644T>A	ENSP00000509593.1:n.1644T>A
ENST00000689011.1:c.439T>A
ENST00000003084.11:c.3857T>A MANE Select	ENSP00000003084.6:p.Phe1286Tyr
ENST00000647720.1:c.1307T>A
ENST00000649781.1:c.3674T>A	ENSP00000497203.1:p.Phe1225Tyr
ENST00000003084.10:c.3857T>A	ENSP00000003084.6:p.Phe1286Tyr
ENST00000426809.5:c.3767T>A	ENSP00000389119.1:p.Phe1256Tyr
NM_000492.3:c.3857T>A , LRG_663t1:c.3857T>A	NP_000483.3:p.Phe1286Tyr
XM_011515751.1:c.3947T>A	XP_011514053.1:p.Phe1316Tyr
XM_011515752.1:c.3947T>A	XP_011514054.1:p.Phe1316Tyr
XM_011515753.1:c.3614T>A	XP_011514055.1:p.Phe1205Tyr
XM_011515754.1:c.3614T>A	XP_011514056.1:p.Phe1205Tyr
NM_000492.4:c.3857T>A MANE Select	NP_000483.3:p.Phe1286Tyr