Canonical Allele Identifier: CA2695205218

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642474dup , CM000669.2:g.117642474dup	GRCh38
NC_000007.13:g.117282528dup , CM000669.1:g.117282528dup	GRCh37
NC_000007.12:g.117069764dup	NCBI36
NG_016465.4:g.181691dup , LRG_663:g.181691dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3554dup	ENSP00000497673.2:p.Tyr1185Ter
ENST00000647978.2:c.*3468dup	ENSP00000497658.1:n.*3468dup
ENST00000649781.2:c.3571dup	ENSP00000497203.1:p.Thr1191AsnfsTer13
ENST00000685018.2:c.3754dup	ENSP00000510194.2:p.Thr1252AsnfsTer13
ENST00000687278.2:c.*407dup	ENSP00000509593.2:n.*407dup
ENST00000699585.1:c.3554dup	ENSP00000514456.1:p.Tyr1185Ter
ENST00000699598.1:c.3754dup	ENSP00000514467.1:p.Thr1252AsnfsTer13
ENST00000699599.1:c.3754dup	ENSP00000514468.1:p.Thr1252AsnfsTer13
ENST00000699600.1:c.*415dup	ENSP00000514469.1:n.*415dup
ENST00000699601.1:c.*2129dup	ENSP00000514470.1:n.*2129dup
ENST00000699602.1:c.3748dup	ENSP00000514471.1:p.Thr1250AsnfsTer13
ENST00000699604.1:c.*3578dup	ENSP00000514472.1:n.*3578dup
ENST00000699605.1:c.3328dup	ENSP00000514473.1:p.Thr1110AsnfsTer13
ENST00000685018.1:c.502dup	ENSP00000510194.1:p.Thr168AsnfsTer13
ENST00000687278.1:c.1541dup	ENSP00000509593.1:n.1541dup
ENST00000689011.1:c.336dup
ENST00000003084.11:c.3754dup MANE Select	ENSP00000003084.6:p.Thr1252AsnfsTer13
ENST00000647720.1:c.1204dup
ENST00000649781.1:c.3571dup	ENSP00000497203.1:p.Thr1191AsnfsTer13
ENST00000003084.10:c.3754dup	ENSP00000003084.6:p.Thr1252AsnfsTer13
ENST00000426809.5:c.3664dup	ENSP00000389119.1:p.Thr1222AsnfsTer13
NM_000492.3:c.3754dup , LRG_663t1:c.3754dup	NP_000483.3:p.Thr1252AsnfsTer13
XM_011515751.1:c.3844dup	XP_011514053.1:p.Thr1282AsnfsTer13
XM_011515752.1:c.3844dup	XP_011514054.1:p.Thr1282AsnfsTer13
XM_011515753.1:c.3511dup	XP_011514055.1:p.Thr1171AsnfsTer13
XM_011515754.1:c.3511dup	XP_011514056.1:p.Thr1171AsnfsTer13
NM_000492.4:c.3754dup MANE Select	NP_000483.3:p.Thr1252AsnfsTer13