Canonical Allele Identifier: CA327441

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665515T>G , CM000669.2:g.117665515T>G	GRCh38
NC_000007.13:g.117305569T>G , CM000669.1:g.117305569T>G	GRCh37
NC_000007.12:g.117092805T>G	NCBI36
NG_016465.4:g.204732T>G , LRG_663:g.204732T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.4193T>G MANE Select	NP_000483.3:p.Ile1398Ser
ENST00000003084.11:c.4193T>G MANE Select	ENSP00000003084.6:p.Ile1398Ser
NM_000492.3:c.4193T>G , LRG_663t1:c.4193T>G	NP_000483.3:p.Ile1398Ser
ENST00000003084.10:c.4193T>G	ENSP00000003084.6:p.Ile1398Ser
ENST00000426809.5:c.4103T>G	ENSP00000389119.1:p.Ile1368Ser
ENST00000600166.1:c.319T>G
ENST00000647720.1:c.1643T>G
ENST00000647720.2:c.*402T>G	ENSP00000497673.2:n.*402T>G
ENST00000647978.2:c.*3907T>G	ENSP00000497658.1:n.*3907T>G
ENST00000649781.1:c.4010T>G	ENSP00000497203.1:p.Ile1337Ser
ENST00000649781.2:c.4010T>G	ENSP00000497203.1:p.Ile1337Ser
ENST00000685018.1:c.1057T>G	ENSP00000510194.1:n.1057T>G
ENST00000685018.2:c.*406T>G	ENSP00000510194.2:n.*406T>G
ENST00000687278.1:c.1980T>G	ENSP00000509593.1:n.1980T>G
ENST00000687278.2:c.*846T>G	ENSP00000509593.2:n.*846T>G
ENST00000689011.1:c.775T>G
ENST00000699585.1:c.*402T>G	ENSP00000514456.1:n.*402T>G
ENST00000699598.1:c.4193T>G	ENSP00000514467.1:p.Ile1398Ser
ENST00000699599.1:c.*406T>G	ENSP00000514468.1:n.*406T>G
ENST00000699600.1:c.*854T>G	ENSP00000514469.1:n.*854T>G
ENST00000699601.1:c.*2568T>G	ENSP00000514470.1:n.*2568T>G
ENST00000699602.1:c.4187T>G	ENSP00000514471.1:p.Ile1396Ser
ENST00000699604.1:c.*4017T>G	ENSP00000514472.1:n.*4017T>G
ENST00000699605.1:c.3767T>G	ENSP00000514473.1:p.Ile1256Ser
ENST00000699606.1:n.2361T>G
XM_011515751.1:c.4283T>G	XP_011514053.1:p.Ile1428Ser
XM_011515752.1:c.4283T>G	XP_011514054.1:p.Ile1428Ser
XM_011515753.1:c.3950T>G	XP_011514055.1:p.Ile1317Ser
XM_011515754.1:c.3950T>G	XP_011514056.1:p.Ile1317Ser