Canonical Allele Identifier: CA2573102336

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.[117642566G>A;117642568G>T] , CM000669.2:g.[117642566G>A;117642568G>T]	GRCh38
NC_000007.13:g.[117282620G>A;117282622G>T] , CM000669.1:g.[117282620G>A;117282622G>T]	GRCh37
NC_000007.12:g.[117069856G>A;117069858G>T]	NCBI36
NG_016465.4:g.[181783G>A;181785G>T] , LRG_663:g.[181783G>A;181785G>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.[*55G>A;*57G>T]	ENSP00000497673.2:n.[*55G>A;*57G>T]
ENST00000647978.2:c.[*3560G>A;*3562G>T]	ENSP00000497658.1:n.[*3560G>A;*3562G>T]
ENST00000649781.2:c.[3663G>A;3665G>T]	ENSP00000497203.1:p.Trp1221Ter
ENST00000685018.2:c.[3846G>A;3848G>T]	ENSP00000510194.2:p.Trp1282Ter
ENST00000687278.2:c.[*499G>A;*501G>T]	ENSP00000509593.2:n.[*499G>A;*501G>T]
ENST00000699585.1:c.[*55G>A;*57G>T]	ENSP00000514456.1:n.[*55G>A;*57G>T]
ENST00000699598.1:c.[3846G>A;3848G>T]	ENSP00000514467.1:p.Trp1282Ter
ENST00000699599.1:c.[3846G>A;3848G>T]	ENSP00000514468.1:p.Trp1282Ter
ENST00000699600.1:c.[*507G>A;*509G>T]	ENSP00000514469.1:n.[*507G>A;*509G>T]
ENST00000699601.1:c.[*2221G>A;*2223G>T]	ENSP00000514470.1:n.[*2221G>A;*2223G>T]
ENST00000699602.1:c.[3840G>A;3842G>T]	ENSP00000514471.1:p.Trp1280Ter
ENST00000699604.1:c.[*3670G>A;*3672G>T]	ENSP00000514472.1:n.[*3670G>A;*3672G>T]
ENST00000699605.1:c.[3420G>A;3422G>T]	ENSP00000514473.1:p.Trp1140Ter
ENST00000685018.1:c.[594G>A;596G>T]	ENSP00000510194.1:p.Trp198Ter
ENST00000687278.1:c.[1633G>A;1635G>T]	ENSP00000509593.1:n.[1633G>A;1635G>T]
ENST00000689011.1:c.[428G>A;430G>T]
ENST00000003084.11:c.[3846G>A;3848G>T] MANE Select	ENSP00000003084.6:p.Trp1282Ter
ENST00000647720.1:c.[1296G>A;1298G>T]
ENST00000649781.1:c.[3663G>A;3665G>T]	ENSP00000497203.1:p.Trp1221Ter
ENST00000003084.10:c.[3846G>A;3848G>T]	ENSP00000003084.6:p.Trp1282Ter
ENST00000426809.5:c.[3756G>A;3758G>T]	ENSP00000389119.1:p.Trp1252Ter
NM_000492.3:c.[3846G>A;3848G>T] , LRG_663t1:c.[3846G>A;3848G>T]	NP_000483.3:p.Trp1282Ter
XM_011515751.1:c.[3936G>A;3938G>T]	XP_011514053.1:p.Trp1312Ter
XM_011515752.1:c.[3936G>A;3938G>T]	XP_011514054.1:p.Trp1312Ter
XM_011515753.1:c.[3603G>A;3605G>T]	XP_011514055.1:p.Trp1201Ter
XM_011515754.1:c.[3603G>A;3605G>T]	XP_011514056.1:p.Trp1201Ter
NM_000492.4:c.[3846G>A;3848G>T] MANE Select	NP_000483.3:p.Trp1282Ter