Canonical Allele Identifier: CA368984454

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666927T>A , CM000669.2:g.117666927T>A	GRCh38
NC_000007.13:g.117306981T>A , CM000669.1:g.117306981T>A	GRCh37
NC_000007.12:g.117094217T>A	NCBI36
NG_016465.4:g.206144T>A , LRG_663:g.206144T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.4262T>A MANE Select	NP_000483.3:p.Val1421Glu
ENST00000003084.11:c.4262T>A MANE Select	ENSP00000003084.6:p.Val1421Glu
NM_000492.3:c.4262T>A , LRG_663t1:c.4262T>A	NP_000483.3:p.Val1421Glu
ENST00000003084.10:c.4262T>A	ENSP00000003084.6:p.Val1421Glu
ENST00000426809.5:c.4172T>A	ENSP00000389119.1:p.Val1391Glu
ENST00000600166.1:c.368+1363T>A
ENST00000647720.1:c.1712T>A
ENST00000647720.2:c.*471T>A	ENSP00000497673.2:n.*471T>A
ENST00000647978.2:c.*3976T>A	ENSP00000497658.1:n.*3976T>A
ENST00000649781.1:c.4079T>A	ENSP00000497203.1:p.Val1360Glu
ENST00000649781.2:c.4079T>A	ENSP00000497203.1:p.Val1360Glu
ENST00000685018.1:c.1126T>A	ENSP00000510194.1:n.1126T>A
ENST00000685018.2:c.*475T>A	ENSP00000510194.2:n.*475T>A
ENST00000687278.1:c.2030-675T>A	ENSP00000509593.1:n.2030-675T>A
ENST00000687278.2:c.*896-675T>A	ENSP00000509593.2:n.*896-675T>A
ENST00000689011.1:c.1104T>A
ENST00000699585.1:c.*731T>A	ENSP00000514456.1:n.*731T>A
ENST00000699598.1:c.4255T>A	ENSP00000514467.1:p.Cys1419Ser
ENST00000699599.1:c.*475T>A	ENSP00000514468.1:n.*475T>A
ENST00000699600.1:c.*904-675T>A	ENSP00000514469.1:n.*904-675T>A
ENST00000699601.1:c.*2637T>A	ENSP00000514470.1:n.*2637T>A
ENST00000699602.1:c.4256T>A	ENSP00000514471.1:p.Val1419Glu
ENST00000699604.1:c.*4086T>A	ENSP00000514472.1:n.*4086T>A
ENST00000699605.1:c.3836T>A	ENSP00000514473.1:p.Val1279Glu
ENST00000699606.1:n.3773T>A
XM_011515751.1:c.4352T>A	XP_011514053.1:p.Val1451Glu
XM_011515753.1:c.4019T>A	XP_011514055.1:p.Val1340Glu
XM_011515754.1:c.4019T>A	XP_011514056.1:p.Val1340Glu