Canonical Allele Identifier: CA368978461

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652898G>A , CM000669.2:g.117652898G>A	GRCh38
NC_000007.13:g.117292952G>A , CM000669.1:g.117292952G>A	GRCh37
NC_000007.12:g.117080188G>A	NCBI36
NG_016465.4:g.192115G>A , LRG_663:g.192115G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3930G>A MANE Select	NP_000483.3:p.Trp1310Ter
ENST00000003084.11:c.3930G>A MANE Select	ENSP00000003084.6:p.Trp1310Ter
NM_000492.3:c.3930G>A , LRG_663t1:c.3930G>A	NP_000483.3:p.Trp1310Ter
ENST00000003084.10:c.3930G>A	ENSP00000003084.6:p.Trp1310Ter
ENST00000426809.5:c.3840G>A	ENSP00000389119.1:p.Trp1280Ter
ENST00000600166.1:c.56G>A
ENST00000647720.1:c.1380G>A
ENST00000647720.2:c.*139G>A	ENSP00000497673.2:n.*139G>A
ENST00000647978.2:c.*3644G>A	ENSP00000497658.1:n.*3644G>A
ENST00000649781.1:c.3747G>A	ENSP00000497203.1:p.Trp1249Ter
ENST00000649781.2:c.3747G>A	ENSP00000497203.1:p.Trp1249Ter
ENST00000685018.1:c.794G>A	ENSP00000510194.1:n.794G>A
ENST00000685018.2:c.*143G>A	ENSP00000510194.2:n.*143G>A
ENST00000687278.1:c.1717G>A	ENSP00000509593.1:n.1717G>A
ENST00000687278.2:c.*583G>A	ENSP00000509593.2:n.*583G>A
ENST00000689011.1:c.512G>A
ENST00000699585.1:c.*139G>A	ENSP00000514456.1:n.*139G>A
ENST00000699598.1:c.3930G>A	ENSP00000514467.1:p.Trp1310Ter
ENST00000699599.1:c.*143G>A	ENSP00000514468.1:n.*143G>A
ENST00000699600.1:c.*591G>A	ENSP00000514469.1:n.*591G>A
ENST00000699601.1:c.*2305G>A	ENSP00000514470.1:n.*2305G>A
ENST00000699602.1:c.3924G>A	ENSP00000514471.1:p.Trp1308Ter
ENST00000699604.1:c.*3754G>A	ENSP00000514472.1:n.*3754G>A
ENST00000699605.1:c.3504G>A	ENSP00000514473.1:p.Trp1168Ter
ENST00000699606.1:n.2098G>A
XM_011515751.1:c.4020G>A	XP_011514053.1:p.Trp1340Ter
XM_011515752.1:c.4020G>A	XP_011514054.1:p.Trp1340Ter
XM_011515753.1:c.3687G>A	XP_011514055.1:p.Trp1229Ter
XM_011515754.1:c.3687G>A	XP_011514056.1:p.Trp1229Ter