Canonical Allele Identifier: CA2579000438

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665432A>T , CM000669.2:g.117665432A>T	GRCh38
NC_000007.13:g.117305486A>T , CM000669.1:g.117305486A>T	GRCh37
NC_000007.12:g.117092722A>T	NCBI36
NG_016465.4:g.204649A>T , LRG_663:g.204649A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*346-27A>T	ENSP00000497673.2:n.*346-27A>T
ENST00000647978.2:c.*3851-27A>T	ENSP00000497658.1:n.*3851-27A>T
ENST00000649781.2:c.3954-27A>T	ENSP00000497203.1:n.3954-27A>T
ENST00000685018.2:c.*350-27A>T	ENSP00000510194.2:n.*350-27A>T
ENST00000687278.2:c.*790-27A>T	ENSP00000509593.2:n.*790-27A>T
ENST00000699585.1:c.*346-27A>T	ENSP00000514456.1:n.*346-27A>T
ENST00000699598.1:c.4137-27A>T	ENSP00000514467.1:n.4137-27A>T
ENST00000699599.1:c.*350-27A>T	ENSP00000514468.1:n.*350-27A>T
ENST00000699600.1:c.*798-27A>T	ENSP00000514469.1:n.*798-27A>T
ENST00000699601.1:c.*2512-27A>T	ENSP00000514470.1:n.*2512-27A>T
ENST00000699602.1:c.4131-27A>T	ENSP00000514471.1:n.4131-27A>T
ENST00000699604.1:c.*3961-27A>T	ENSP00000514472.1:n.*3961-27A>T
ENST00000699605.1:c.3711-27A>T	ENSP00000514473.1:n.3711-27A>T
ENST00000699606.1:n.2305-27A>T
ENST00000685018.1:c.1001-27A>T	ENSP00000510194.1:n.1001-27A>T
ENST00000687278.1:c.1924-27A>T	ENSP00000509593.1:n.1924-27A>T
ENST00000689011.1:c.719-27A>T
ENST00000003084.11:c.4137-27A>T MANE Select	ENSP00000003084.6:n.4137-27A>T
ENST00000647720.1:c.1587-27A>T
ENST00000649781.1:c.3954-27A>T	ENSP00000497203.1:n.3954-27A>T
ENST00000003084.10:c.4137-27A>T	ENSP00000003084.6:n.4137-27A>T
ENST00000426809.5:c.4047-27A>T	ENSP00000389119.1:n.4047-27A>T
ENST00000600166.1:c.263-27A>T
NM_000492.3:c.4137-27A>T , LRG_663t1:c.4137-27A>T	NP_000483.3:n.4137-27A>T
XM_011515751.1:c.4227-27A>T	XP_011514053.1:n.4227-27A>T
XM_011515752.1:c.4227-27A>T	XP_011514054.1:n.4227-27A>T
XM_011515753.1:c.3894-27A>T	XP_011514055.1:n.3894-27A>T
XM_011515754.1:c.3894-27A>T	XP_011514056.1:n.3894-27A>T
NM_000492.4:c.4137-27A>T MANE Select	NP_000483.3:n.4137-27A>T