Canonical Allele Identifier: CA221027

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627617G>A , CM000669.2:g.117627617G>A	GRCh38
NC_000007.13:g.117267671G>A , CM000669.1:g.117267671G>A	GRCh37
NC_000007.12:g.117054907G>A	NCBI36
NG_016465.4:g.166834G>A , LRG_663:g.166834G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3564G>A MANE Select	NP_000483.3:p.Ser1188=
ENST00000003084.11:c.3564G>A MANE Select	ENSP00000003084.6:p.Ser1188=
NM_000492.3:c.3564G>A , LRG_663t1:c.3564G>A	NP_000483.3:p.Ser1188=
ENST00000003084.10:c.3564G>A	ENSP00000003084.6:p.Ser1188=
ENST00000426809.5:c.3474G>A	ENSP00000389119.1:p.Ser1158=
ENST00000468795.1:c.389G>A
ENST00000647720.1:c.1167+47G>A
ENST00000647720.2:c.3517+47G>A	ENSP00000497673.2:n.3517+47G>A
ENST00000647978.2:c.*3278G>A	ENSP00000497658.1:n.*3278G>A
ENST00000648260.1:c.2346G>A	ENSP00000497957.1:p.Ser782=
ENST00000649406.1:c.3381G>A	ENSP00000497965.1:p.Ser1127=
ENST00000649781.1:c.3381G>A	ENSP00000497203.1:p.Ser1127=
ENST00000649781.2:c.3381G>A	ENSP00000497203.1:p.Ser1127=
ENST00000685018.1:c.312G>A	ENSP00000510194.1:p.Ser104=
ENST00000685018.2:c.3564G>A	ENSP00000510194.2:p.Ser1188=
ENST00000687278.1:c.1351G>A	ENSP00000509593.1:n.1351G>A
ENST00000687278.2:c.*217G>A	ENSP00000509593.2:n.*217G>A
ENST00000689011.1:c.146G>A
ENST00000699585.1:c.3517+47G>A	ENSP00000514456.1:n.3517+47G>A
ENST00000699598.1:c.3564G>A	ENSP00000514467.1:p.Ser1188=
ENST00000699599.1:c.3564G>A	ENSP00000514468.1:p.Ser1188=
ENST00000699600.1:c.*225G>A	ENSP00000514469.1:n.*225G>A
ENST00000699601.1:c.*1939G>A	ENSP00000514470.1:n.*1939G>A
ENST00000699602.1:c.3558G>A	ENSP00000514471.1:p.Ser1186=
ENST00000699604.1:c.*3388G>A	ENSP00000514472.1:n.*3388G>A
ENST00000699605.1:c.3138G>A	ENSP00000514473.1:p.Ser1046=
XM_011515751.1:c.3654G>A	XP_011514053.1:p.Ser1218=
XM_011515752.1:c.3654G>A	XP_011514054.1:p.Ser1218=
XM_011515753.1:c.3321G>A	XP_011514055.1:p.Ser1107=
XM_011515754.1:c.3321G>A	XP_011514056.1:p.Ser1107=