Canonical Allele Identifier: CA915945457

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664865G>A , CM000669.2:g.117664865G>A	GRCh38
NC_000007.13:g.117304919G>A , CM000669.1:g.117304919G>A	GRCh37
NC_000007.12:g.117092155G>A	NCBI36
NG_016465.4:g.204082G>A , LRG_663:g.204082G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.4136+5G>A MANE Select	NP_000483.3:n.4136+5G>A
ENST00000003084.11:c.4136+5G>A MANE Select	ENSP00000003084.6:n.4136+5G>A
NM_000492.3:c.4136+5G>A , LRG_663t1:c.4136+5G>A	NP_000483.3:n.4136+5G>A
ENST00000003084.10:c.4136+5G>A	ENSP00000003084.6:n.4136+5G>A
ENST00000426809.5:c.4046+5G>A	ENSP00000389119.1:n.4046+5G>A
ENST00000600166.1:c.262+5G>A
ENST00000647720.1:c.1586+5G>A
ENST00000647720.2:c.*345+5G>A	ENSP00000497673.2:n.*345+5G>A
ENST00000647978.2:c.*3850+5G>A	ENSP00000497658.1:n.*3850+5G>A
ENST00000649781.1:c.3953+5G>A	ENSP00000497203.1:n.3953+5G>A
ENST00000649781.2:c.3953+5G>A	ENSP00000497203.1:n.3953+5G>A
ENST00000685018.1:c.1000+5G>A	ENSP00000510194.1:n.1000+5G>A
ENST00000685018.2:c.*349+5G>A	ENSP00000510194.2:n.*349+5G>A
ENST00000687278.1:c.1923+5G>A	ENSP00000509593.1:n.1923+5G>A
ENST00000687278.2:c.*789+5G>A	ENSP00000509593.2:n.*789+5G>A
ENST00000689011.1:c.718+5G>A
ENST00000699585.1:c.*345+5G>A	ENSP00000514456.1:n.*345+5G>A
ENST00000699598.1:c.4136+5G>A	ENSP00000514467.1:n.4136+5G>A
ENST00000699599.1:c.*349+5G>A	ENSP00000514468.1:n.*349+5G>A
ENST00000699600.1:c.*797+5G>A	ENSP00000514469.1:n.*797+5G>A
ENST00000699601.1:c.*2511+5G>A	ENSP00000514470.1:n.*2511+5G>A
ENST00000699602.1:c.4130+5G>A	ENSP00000514471.1:n.4130+5G>A
ENST00000699604.1:c.*3960+5G>A	ENSP00000514472.1:n.*3960+5G>A
ENST00000699605.1:c.3710+5G>A	ENSP00000514473.1:n.3710+5G>A
ENST00000699606.1:n.2304+5G>A
XM_011515751.1:c.4226+5G>A	XP_011514053.1:n.4226+5G>A
XM_011515752.1:c.4226+5G>A	XP_011514054.1:n.4226+5G>A
XM_011515753.1:c.3893+5G>A	XP_011514055.1:n.3893+5G>A
XM_011515754.1:c.3893+5G>A	XP_011514056.1:n.3893+5G>A