Canonical Allele Identifier: CA1139767766

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.[117590400G>C;117592169C>T] , CM000669.2:g.[117590400G>C;117592169C>T]	GRCh38
NC_000007.13:g.[117230454G>C;117232223C>T] , CM000669.1:g.[117230454G>C;117232223C>T]	GRCh37
NC_000007.12:g.[117017690G>C;117019459C>T]	NCBI36
NG_016465.4:g.[129617G>C;131386C>T] , LRG_663:g.[129617G>C;131386C>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.[1727G>C;2002C>T]	ENSP00000497673.2:p.[Gly576Ala;Arg668Cys]
ENST00000647978.2:c.[*1441G>C;*1716C>T]	ENSP00000497658.1:n.[*1441G>C;*1716C>T]
ENST00000649781.2:c.[1544G>C;1819C>T]	ENSP00000497203.1:p.[Gly515Ala;Arg607Cys]
ENST00000685018.2:c.[1727G>C;2002C>T]	ENSP00000510194.2:p.[Gly576Ala;Arg668Cys]
ENST00000687278.2:c.[1727G>C;2002C>T]	ENSP00000509593.2:p.[Gly576Ala;Arg668Cys]
ENST00000699585.1:c.[1727G>C;2002C>T]	ENSP00000514456.1:p.[Gly576Ala;Arg668Cys]
ENST00000699598.1:c.[1727G>C;2002C>T]	ENSP00000514467.1:p.[Gly576Ala;Arg668Cys]
ENST00000699599.1:c.[1727G>C;2002C>T]	ENSP00000514468.1:p.[Gly576Ala;Arg668Cys]
ENST00000699600.1:c.[1727G>C;2002C>T]	ENSP00000514469.1:p.[Gly576Ala;Arg668Cys]
ENST00000699601.1:c.[*27G>C;*302C>T]	ENSP00000514470.1:n.[*27G>C;*302C>T]
ENST00000699602.1:c.[1727G>C;2002C>T]	ENSP00000514471.1:p.[Gly576Ala;Arg668Cys]
ENST00000699604.1:c.[*1551G>C;*1826C>T]	ENSP00000514472.1:n.[*1551G>C;*1826C>T]
ENST00000699605.1:c.[1301G>C;1576C>T]	ENSP00000514473.1:p.[Gly434Ala;Arg526Cys]
ENST00000003084.11:c.[1727G>C;2002C>T] MANE Select	ENSP00000003084.6:p.[Gly576Ala;Arg668Cys]
ENST00000647978.1:c.[*1441G>C;*1716C>T]	ENSP00000497658.1:n.[*1441G>C;*1716C>T]
ENST00000648260.1:c.[1402-12426G>C;1402-10657C>T]	ENSP00000497957.1:n.[1402-12426G>C;1402-10657C>T]
ENST00000649406.1:c.[1544G>C;1819C>T]	ENSP00000497965.1:p.[Gly515Ala;Arg607Cys]
ENST00000649781.1:c.[1544G>C;1819C>T]	ENSP00000497203.1:p.[Gly515Ala;Arg607Cys]
ENST00000003084.10:c.[1727G>C;2002C>T]	ENSP00000003084.6:p.[Gly576Ala;Arg668Cys]
ENST00000426809.5:c.[1637G>C;1912C>T]	ENSP00000389119.1:p.[Gly546Ala;Arg638Cys]
NM_000492.3:c.[1727G>C;2002C>T] , LRG_663t1:c.[1727G>C;2002C>T]	NP_000483.3:p.[Gly576Ala;Arg668Cys]
XM_011515751.1:c.[1817G>C;2092C>T]	XP_011514053.1:p.[Gly606Ala;Arg698Cys]
XM_011515752.1:c.[1817G>C;2092C>T]	XP_011514054.1:p.[Gly606Ala;Arg698Cys]
XM_011515753.1:c.[1484G>C;1759C>T]	XP_011514055.1:p.[Gly495Ala;Arg587Cys]
XM_011515754.1:c.[1484G>C;1759C>T]	XP_011514056.1:p.[Gly495Ala;Arg587Cys]
NM_000492.4:c.[1727G>C;2002C>T] MANE Select	NP_000483.3:p.[Gly576Ala;Arg668Cys]