Canonical Allele Identifier: CA260246

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664721G>T , CM000669.2:g.117664721G>T	GRCh38
NC_000007.13:g.117304775G>T , CM000669.1:g.117304775G>T	GRCh37
NC_000007.12:g.117092011G>T	NCBI36
NG_016465.4:g.203938G>T , LRG_663:g.203938G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3997G>T MANE Select	NP_000483.3:p.Gly1333Trp
ENST00000003084.11:c.3997G>T MANE Select	ENSP00000003084.6:p.Gly1333Trp
NM_000492.3:c.3997G>T , LRG_663t1:c.3997G>T	NP_000483.3:p.Gly1333Trp
ENST00000003084.10:c.3997G>T	ENSP00000003084.6:p.Gly1333Trp
ENST00000426809.5:c.3907G>T	ENSP00000389119.1:p.Gly1303Trp
ENST00000600166.1:c.123G>T
ENST00000647720.1:c.1447G>T
ENST00000647720.2:c.*206G>T	ENSP00000497673.2:n.*206G>T
ENST00000647978.2:c.*3711G>T	ENSP00000497658.1:n.*3711G>T
ENST00000649781.1:c.3814G>T	ENSP00000497203.1:p.Gly1272Trp
ENST00000649781.2:c.3814G>T	ENSP00000497203.1:p.Gly1272Trp
ENST00000685018.1:c.861G>T	ENSP00000510194.1:n.861G>T
ENST00000685018.2:c.*210G>T	ENSP00000510194.2:n.*210G>T
ENST00000687278.1:c.1784G>T	ENSP00000509593.1:n.1784G>T
ENST00000687278.2:c.*650G>T	ENSP00000509593.2:n.*650G>T
ENST00000689011.1:c.579G>T
ENST00000699585.1:c.*206G>T	ENSP00000514456.1:n.*206G>T
ENST00000699598.1:c.3997G>T	ENSP00000514467.1:p.Gly1333Trp
ENST00000699599.1:c.*210G>T	ENSP00000514468.1:n.*210G>T
ENST00000699600.1:c.*658G>T	ENSP00000514469.1:n.*658G>T
ENST00000699601.1:c.*2372G>T	ENSP00000514470.1:n.*2372G>T
ENST00000699602.1:c.3991G>T	ENSP00000514471.1:p.Gly1331Trp
ENST00000699604.1:c.*3821G>T	ENSP00000514472.1:n.*3821G>T
ENST00000699605.1:c.3571G>T	ENSP00000514473.1:p.Gly1191Trp
ENST00000699606.1:n.2165G>T
XM_011515751.1:c.4087G>T	XP_011514053.1:p.Gly1363Trp
XM_011515752.1:c.4087G>T	XP_011514054.1:p.Gly1363Trp
XM_011515753.1:c.3754G>T	XP_011514055.1:p.Gly1252Trp
XM_011515754.1:c.3754G>T	XP_011514056.1:p.Gly1252Trp