Canonical Allele Identifier: CA326927

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603671A>G , CM000669.2:g.117603671A>G	GRCh38
NC_000007.13:g.117243725A>G , CM000669.1:g.117243725A>G	GRCh37
NC_000007.12:g.117030961A>G	NCBI36
NG_016465.4:g.142888A>G , LRG_663:g.142888A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.2797A>G MANE Select	NP_000483.3:p.Arg933Gly
ENST00000003084.11:c.2797A>G MANE Select	ENSP00000003084.6:p.Arg933Gly
NM_000492.3:c.2797A>G , LRG_663t1:c.2797A>G	NP_000483.3:p.Arg933Gly
ENST00000003084.10:c.2797A>G	ENSP00000003084.6:p.Arg933Gly
ENST00000426809.5:c.2707A>G	ENSP00000389119.1:p.Arg903Gly
ENST00000647720.1:c.447A>G
ENST00000647720.2:c.2797A>G	ENSP00000497673.2:p.Arg933Gly
ENST00000647978.2:c.*2511A>G	ENSP00000497658.1:n.*2511A>G
ENST00000648260.1:c.1579A>G	ENSP00000497957.1:p.Arg527Gly
ENST00000649406.1:c.2614A>G	ENSP00000497965.1:p.Arg872Gly
ENST00000649781.1:c.2614A>G	ENSP00000497203.1:p.Arg872Gly
ENST00000649781.2:c.2614A>G	ENSP00000497203.1:p.Arg872Gly
ENST00000685018.2:c.2797A>G	ENSP00000510194.2:p.Arg933Gly
ENST00000687278.1:c.388A>G	ENSP00000509593.1:p.Arg130Gly
ENST00000687278.2:c.2797A>G	ENSP00000509593.2:p.Arg933Gly
ENST00000699585.1:c.2797A>G	ENSP00000514456.1:p.Arg933Gly
ENST00000699598.1:c.2797A>G	ENSP00000514467.1:p.Arg933Gly
ENST00000699599.1:c.2797A>G	ENSP00000514468.1:p.Arg933Gly
ENST00000699600.1:c.2797A>G	ENSP00000514469.1:p.Arg933Gly
ENST00000699601.1:c.*1097A>G	ENSP00000514470.1:n.*1097A>G
ENST00000699602.1:c.2797A>G	ENSP00000514471.1:p.Arg933Gly
ENST00000699604.1:c.*2621A>G	ENSP00000514472.1:n.*2621A>G
ENST00000699605.1:c.2371A>G	ENSP00000514473.1:p.Arg791Gly
XM_011515751.1:c.2887A>G	XP_011514053.1:p.Arg963Gly
XM_011515752.1:c.2887A>G	XP_011514054.1:p.Arg963Gly
XM_011515753.1:c.2554A>G	XP_011514055.1:p.Arg852Gly
XM_011515754.1:c.2554A>G	XP_011514056.1:p.Arg852Gly