Canonical Allele Identifier: CA353800

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.[117530975G>A;117548635del] , CM000669.2:g.[117530975G>A;117548635del]	GRCh38
NC_000007.13:g.[117171029G>A;117188689del] , CM000669.1:g.[117171029G>A;117188689del]	GRCh37
NC_000007.12:g.[116958265G>A;116975925del]	NCBI36
NG_016465.4:g.[70192G>A;87852del] , LRG_663:g.[70192G>A;87852del]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.[350G>A;1210-6del]	ENSP00000497673.2:p.Arg117His
ENST00000647978.2:c.[*247G>A;*1106+6527del]	ENSP00000497658.1:n.[*247G>A;*1106+6527del]
ENST00000649781.2:c.[350G>A;1209+6527del]	ENSP00000497203.1:p.Arg117His
ENST00000685018.2:c.[350G>A;1210-6del]	ENSP00000510194.2:p.Arg117His
ENST00000687278.2:c.[350G>A;1210-6del]	ENSP00000509593.2:p.Arg117His
ENST00000699585.1:c.[350G>A;1210-6del]	ENSP00000514456.1:p.Arg117His
ENST00000699596.1:c.[350G>A;1210-6del]	ENSP00000514465.1:p.Arg117His
ENST00000699597.1:c.[350G>A;1210-6del]	ENSP00000514466.1:p.Arg117His
ENST00000699598.1:c.[350G>A;1210-6del]	ENSP00000514467.1:p.Arg117His
ENST00000699599.1:c.[350G>A;1210-6del]	ENSP00000514468.1:p.Arg117His
ENST00000699600.1:c.[350G>A;1210-6del]	ENSP00000514469.1:p.Arg117His
ENST00000699601.1:c.[350G>A;1210-6del]	ENSP00000514470.1:p.Arg117His
ENST00000699602.1:c.[350G>A;1210-6del]	ENSP00000514471.1:p.Arg117His
ENST00000699604.1:c.[*174G>A;*1034-6del]	ENSP00000514472.1:n.[*174G>A;*1034-6del]
ENST00000699605.1:c.[107G>A;966+6527del]	ENSP00000514473.1:p.Arg36His
ENST00000003084.11:c.[350G>A;1210-6del] MANE Select	ENSP00000003084.6:p.Arg117His
ENST00000647978.1:c.[*247G>A;*1106+6527del]	ENSP00000497658.1:n.[*247G>A;*1106+6527del]
ENST00000648260.1:c.[350G>A;1209+6527del]	ENSP00000497957.1:p.Arg117His
ENST00000649406.1:c.[350G>A;1209+6527del]	ENSP00000497965.1:p.Arg117His
ENST00000649781.1:c.[350G>A;1209+6527del]	ENSP00000497203.1:p.Arg117His
ENST00000673785.1:c.[107G>A;967-6del]	ENSP00000501235.1:p.Arg36His
ENST00000003084.10:c.[350G>A;1210-6del]	ENSP00000003084.6:p.Arg117His
ENST00000426809.5:c.[350G>A;1120-6del]	ENSP00000389119.1:p.Arg117His
NM_000492.3:c.[350G>A;1210-6del] , LRG_663t1:c.[350G>A;1210-6del]	NP_000483.3:p.Arg117His
XM_011515751.1:c.[440G>A;1300-6del]	XP_011514053.1:p.Arg147His
XM_011515752.1:c.[440G>A;1300-6del]	XP_011514054.1:p.Arg147His
XM_011515753.1:c.[107G>A;967-6del]	XP_011514055.1:p.Arg36His
XM_011515754.1:c.[107G>A;967-6del]	XP_011514056.1:p.Arg36His
NM_000492.4:c.[350G>A;1210-6del] MANE Select	NP_000483.3:p.Arg117His