Canonical Allele Identifier: CA4451699

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667023G>A , CM000669.2:g.117667023G>A	GRCh38
NC_000007.13:g.117307077G>A , CM000669.1:g.117307077G>A	GRCh37
NC_000007.12:g.117094313G>A	NCBI36
NG_016465.4:g.206240G>A , LRG_663:g.206240G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.4358G>A MANE Select	NP_000483.3:p.Arg1453Gln
ENST00000003084.11:c.4358G>A MANE Select	ENSP00000003084.6:p.Arg1453Gln
NM_000492.3:c.4358G>A , LRG_663t1:c.4358G>A	NP_000483.3:p.Arg1453Gln
ENST00000003084.10:c.4358G>A	ENSP00000003084.6:p.Arg1453Gln
ENST00000426809.5:c.4268G>A	ENSP00000389119.1:p.Arg1423Gln
ENST00000600166.1:c.368+1459G>A
ENST00000647720.1:c.1808G>A
ENST00000647720.2:c.*567G>A	ENSP00000497673.2:n.*567G>A
ENST00000647978.2:c.*4072G>A	ENSP00000497658.1:n.*4072G>A
ENST00000649781.1:c.4175G>A	ENSP00000497203.1:p.Arg1392Gln
ENST00000649781.2:c.4175G>A	ENSP00000497203.1:p.Arg1392Gln
ENST00000685018.1:c.1222G>A	ENSP00000510194.1:n.1222G>A
ENST00000685018.2:c.*571G>A	ENSP00000510194.2:n.*571G>A
ENST00000687278.1:c.2030-579G>A	ENSP00000509593.1:n.2030-579G>A
ENST00000687278.2:c.*896-579G>A	ENSP00000509593.2:n.*896-579G>A
ENST00000689011.1:c.1200G>A
ENST00000699585.1:c.*827G>A	ENSP00000514456.1:n.*827G>A
ENST00000699598.1:c.*64G>A	ENSP00000514467.1:n.*64G>A
ENST00000699599.1:c.*571G>A	ENSP00000514468.1:n.*571G>A
ENST00000699600.1:c.*904-579G>A	ENSP00000514469.1:n.*904-579G>A
ENST00000699601.1:c.*2733G>A	ENSP00000514470.1:n.*2733G>A
ENST00000699602.1:c.4352G>A	ENSP00000514471.1:p.Arg1451Gln
ENST00000699604.1:c.*4182G>A	ENSP00000514472.1:n.*4182G>A
ENST00000699605.1:c.3932G>A	ENSP00000514473.1:p.Arg1311Gln
ENST00000699606.1:n.3869G>A
XM_011515751.1:c.4448G>A	XP_011514053.1:p.Arg1483Gln
XM_011515753.1:c.4115G>A	XP_011514055.1:p.Arg1372Gln
XM_011515754.1:c.4115G>A	XP_011514056.1:p.Arg1372Gln