Canonical Allele Identifier: CA327479

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666998G>A , CM000669.2:g.117666998G>A	GRCh38
NC_000007.13:g.117307052G>A , CM000669.1:g.117307052G>A	GRCh37
NC_000007.12:g.117094288G>A	NCBI36
NG_016465.4:g.206215G>A , LRG_663:g.206215G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.4333G>A MANE Select	NP_000483.3:p.Asp1445Asn
ENST00000003084.11:c.4333G>A MANE Select	ENSP00000003084.6:p.Asp1445Asn
NM_000492.3:c.4333G>A , LRG_663t1:c.4333G>A	NP_000483.3:p.Asp1445Asn
ENST00000003084.10:c.4333G>A	ENSP00000003084.6:p.Asp1445Asn
ENST00000426809.5:c.4243G>A	ENSP00000389119.1:p.Asp1415Asn
ENST00000600166.1:c.368+1434G>A
ENST00000647720.1:c.1783G>A
ENST00000647720.2:c.*542G>A	ENSP00000497673.2:n.*542G>A
ENST00000647978.2:c.*4047G>A	ENSP00000497658.1:n.*4047G>A
ENST00000649781.1:c.4150G>A	ENSP00000497203.1:p.Asp1384Asn
ENST00000649781.2:c.4150G>A	ENSP00000497203.1:p.Asp1384Asn
ENST00000685018.1:c.1197G>A	ENSP00000510194.1:n.1197G>A
ENST00000685018.2:c.*546G>A	ENSP00000510194.2:n.*546G>A
ENST00000687278.1:c.2030-604G>A	ENSP00000509593.1:n.2030-604G>A
ENST00000687278.2:c.*896-604G>A	ENSP00000509593.2:n.*896-604G>A
ENST00000689011.1:c.1175G>A
ENST00000699585.1:c.*802G>A	ENSP00000514456.1:n.*802G>A
ENST00000699598.1:c.*39G>A	ENSP00000514467.1:n.*39G>A
ENST00000699599.1:c.*546G>A	ENSP00000514468.1:n.*546G>A
ENST00000699600.1:c.*904-604G>A	ENSP00000514469.1:n.*904-604G>A
ENST00000699601.1:c.*2708G>A	ENSP00000514470.1:n.*2708G>A
ENST00000699602.1:c.4327G>A	ENSP00000514471.1:p.Asp1443Asn
ENST00000699604.1:c.*4157G>A	ENSP00000514472.1:n.*4157G>A
ENST00000699605.1:c.3907G>A	ENSP00000514473.1:p.Asp1303Asn
ENST00000699606.1:n.3844G>A
XM_011515751.1:c.4423G>A	XP_011514053.1:p.Asp1475Asn
XM_011515753.1:c.4090G>A	XP_011514055.1:p.Asp1364Asn
XM_011515754.1:c.4090G>A	XP_011514056.1:p.Asp1364Asn