Canonical Allele Identifier: CA368975375

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642556T>A , CM000669.2:g.117642556T>A	GRCh38
NC_000007.13:g.117282610T>A , CM000669.1:g.117282610T>A	GRCh37
NC_000007.12:g.117069846T>A	NCBI36
NG_016465.4:g.181773T>A , LRG_663:g.181773T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3836T>A MANE Select	NP_000483.3:p.Leu1279Ter
ENST00000003084.11:c.3836T>A MANE Select	ENSP00000003084.6:p.Leu1279Ter
NM_000492.3:c.3836T>A , LRG_663t1:c.3836T>A	NP_000483.3:p.Leu1279Ter
ENST00000003084.10:c.3836T>A	ENSP00000003084.6:p.Leu1279Ter
ENST00000426809.5:c.3746T>A	ENSP00000389119.1:p.Leu1249Ter
ENST00000647720.1:c.1286T>A
ENST00000647720.2:c.*45T>A	ENSP00000497673.2:n.*45T>A
ENST00000647978.2:c.*3550T>A	ENSP00000497658.1:n.*3550T>A
ENST00000649781.1:c.3653T>A	ENSP00000497203.1:p.Leu1218Ter
ENST00000649781.2:c.3653T>A	ENSP00000497203.1:p.Leu1218Ter
ENST00000685018.1:c.584T>A	ENSP00000510194.1:p.Leu195Ter
ENST00000685018.2:c.3836T>A	ENSP00000510194.2:p.Leu1279Ter
ENST00000687278.1:c.1623T>A	ENSP00000509593.1:n.1623T>A
ENST00000687278.2:c.*489T>A	ENSP00000509593.2:n.*489T>A
ENST00000689011.1:c.418T>A
ENST00000699585.1:c.*45T>A	ENSP00000514456.1:n.*45T>A
ENST00000699598.1:c.3836T>A	ENSP00000514467.1:p.Leu1279Ter
ENST00000699599.1:c.3836T>A	ENSP00000514468.1:p.Leu1279Ter
ENST00000699600.1:c.*497T>A	ENSP00000514469.1:n.*497T>A
ENST00000699601.1:c.*2211T>A	ENSP00000514470.1:n.*2211T>A
ENST00000699602.1:c.3830T>A	ENSP00000514471.1:p.Leu1277Ter
ENST00000699604.1:c.*3660T>A	ENSP00000514472.1:n.*3660T>A
ENST00000699605.1:c.3410T>A	ENSP00000514473.1:p.Leu1137Ter
XM_011515751.1:c.3926T>A	XP_011514053.1:p.Leu1309Ter
XM_011515752.1:c.3926T>A	XP_011514054.1:p.Leu1309Ter
XM_011515753.1:c.3593T>A	XP_011514055.1:p.Leu1198Ter
XM_011515754.1:c.3593T>A	XP_011514056.1:p.Leu1198Ter