Canonical Allele Identifier: CA325603

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642472G>A , CM000669.2:g.117642472G>A	GRCh38
NC_000007.13:g.117282526G>A , CM000669.1:g.117282526G>A	GRCh37
NC_000007.12:g.117069762G>A	NCBI36
NG_016465.4:g.181689G>A , LRG_663:g.181689G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3752G>A MANE Select	NP_000483.3:p.Ser1251Asn
ENST00000003084.11:c.3752G>A MANE Select	ENSP00000003084.6:p.Ser1251Asn
NM_000492.3:c.3752G>A , LRG_663t1:c.3752G>A	NP_000483.3:p.Ser1251Asn
ENST00000003084.10:c.3752G>A	ENSP00000003084.6:p.Ser1251Asn
ENST00000426809.5:c.3662G>A	ENSP00000389119.1:p.Ser1221Asn
ENST00000647720.1:c.1202G>A
ENST00000647720.2:c.3552G>A	ENSP00000497673.2:p.Glu1184=
ENST00000647978.2:c.*3466G>A	ENSP00000497658.1:n.*3466G>A
ENST00000649781.1:c.3569G>A	ENSP00000497203.1:p.Ser1190Asn
ENST00000649781.2:c.3569G>A	ENSP00000497203.1:p.Ser1190Asn
ENST00000685018.1:c.500G>A	ENSP00000510194.1:p.Ser167Asn
ENST00000685018.2:c.3752G>A	ENSP00000510194.2:p.Ser1251Asn
ENST00000687278.1:c.1539G>A	ENSP00000509593.1:n.1539G>A
ENST00000687278.2:c.*405G>A	ENSP00000509593.2:n.*405G>A
ENST00000689011.1:c.334G>A
ENST00000699585.1:c.3552G>A	ENSP00000514456.1:p.Glu1184=
ENST00000699598.1:c.3752G>A	ENSP00000514467.1:p.Ser1251Asn
ENST00000699599.1:c.3752G>A	ENSP00000514468.1:p.Ser1251Asn
ENST00000699600.1:c.*413G>A	ENSP00000514469.1:n.*413G>A
ENST00000699601.1:c.*2127G>A	ENSP00000514470.1:n.*2127G>A
ENST00000699602.1:c.3746G>A	ENSP00000514471.1:p.Ser1249Asn
ENST00000699604.1:c.*3576G>A	ENSP00000514472.1:n.*3576G>A
ENST00000699605.1:c.3326G>A	ENSP00000514473.1:p.Ser1109Asn
XM_011515751.1:c.3842G>A	XP_011514053.1:p.Ser1281Asn
XM_011515752.1:c.3842G>A	XP_011514054.1:p.Ser1281Asn
XM_011515753.1:c.3509G>A	XP_011514055.1:p.Ser1170Asn
XM_011515754.1:c.3509G>A	XP_011514056.1:p.Ser1170Asn