Canonical Allele Identifier: CA327282

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642484C>T , CM000669.2:g.117642484C>T	GRCh38
NC_000007.13:g.117282538C>T , CM000669.1:g.117282538C>T	GRCh37
NC_000007.12:g.117069774C>T	NCBI36
NG_016465.4:g.181701C>T , LRG_663:g.181701C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3764C>T MANE Select	NP_000483.3:p.Ser1255Leu
ENST00000003084.11:c.3764C>T MANE Select	ENSP00000003084.6:p.Ser1255Leu
NM_000492.3:c.3764C>T , LRG_663t1:c.3764C>T	NP_000483.3:p.Ser1255Leu
ENST00000003084.10:c.3764C>T	ENSP00000003084.6:p.Ser1255Leu
ENST00000426809.5:c.3674C>T	ENSP00000389119.1:p.Ser1225Leu
ENST00000647720.1:c.1214C>T
ENST00000647720.2:c.3564C>T	ENSP00000497673.2:p.Ile1188=
ENST00000647978.2:c.*3478C>T	ENSP00000497658.1:n.*3478C>T
ENST00000649781.1:c.3581C>T	ENSP00000497203.1:p.Ser1194Leu
ENST00000649781.2:c.3581C>T	ENSP00000497203.1:p.Ser1194Leu
ENST00000685018.1:c.512C>T	ENSP00000510194.1:p.Ser171Leu
ENST00000685018.2:c.3764C>T	ENSP00000510194.2:p.Ser1255Leu
ENST00000687278.1:c.1551C>T	ENSP00000509593.1:n.1551C>T
ENST00000687278.2:c.*417C>T	ENSP00000509593.2:n.*417C>T
ENST00000689011.1:c.346C>T
ENST00000699585.1:c.3564C>T	ENSP00000514456.1:p.Ile1188=
ENST00000699598.1:c.3764C>T	ENSP00000514467.1:p.Ser1255Leu
ENST00000699599.1:c.3764C>T	ENSP00000514468.1:p.Ser1255Leu
ENST00000699600.1:c.*425C>T	ENSP00000514469.1:n.*425C>T
ENST00000699601.1:c.*2139C>T	ENSP00000514470.1:n.*2139C>T
ENST00000699602.1:c.3758C>T	ENSP00000514471.1:p.Ser1253Leu
ENST00000699604.1:c.*3588C>T	ENSP00000514472.1:n.*3588C>T
ENST00000699605.1:c.3338C>T	ENSP00000514473.1:p.Ser1113Leu
XM_011515751.1:c.3854C>T	XP_011514053.1:p.Ser1285Leu
XM_011515752.1:c.3854C>T	XP_011514054.1:p.Ser1285Leu
XM_011515753.1:c.3521C>T	XP_011514055.1:p.Ser1174Leu
XM_011515754.1:c.3521C>T	XP_011514056.1:p.Ser1174Leu