Canonical Allele Identifier: CA2840287844

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590479A>G , CM000669.2:g.117590479A>G	GRCh38
NC_000007.13:g.117230533A>G , CM000669.1:g.117230533A>G	GRCh37
NC_000007.12:g.117017769A>G	NCBI36
NG_016465.4:g.129696A>G , LRG_663:g.129696A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1766+40A>G	ENSP00000497673.2:n.1766+40A>G
ENST00000647978.2:c.*1480+40A>G	ENSP00000497658.1:n.*1480+40A>G
ENST00000649781.2:c.1583+40A>G	ENSP00000497203.1:n.1583+40A>G
ENST00000685018.2:c.1766+40A>G	ENSP00000510194.2:n.1766+40A>G
ENST00000687278.2:c.1766+40A>G	ENSP00000509593.2:n.1766+40A>G
ENST00000699585.1:c.1766+40A>G	ENSP00000514456.1:n.1766+40A>G
ENST00000699598.1:c.1766+40A>G	ENSP00000514467.1:n.1766+40A>G
ENST00000699599.1:c.1766+40A>G	ENSP00000514468.1:n.1766+40A>G
ENST00000699600.1:c.1766+40A>G	ENSP00000514469.1:n.1766+40A>G
ENST00000699601.1:c.*66+40A>G	ENSP00000514470.1:n.*66+40A>G
ENST00000699602.1:c.1766+40A>G	ENSP00000514471.1:n.1766+40A>G
ENST00000699604.1:c.*1590+40A>G	ENSP00000514472.1:n.*1590+40A>G
ENST00000699605.1:c.1340+40A>G	ENSP00000514473.1:n.1340+40A>G
ENST00000003084.11:c.1766+40A>G MANE Select	ENSP00000003084.6:n.1766+40A>G
ENST00000647978.1:c.*1480+40A>G	ENSP00000497658.1:n.*1480+40A>G
ENST00000648260.1:c.1402-12347A>G	ENSP00000497957.1:n.1402-12347A>G
ENST00000649406.1:c.1583+40A>G	ENSP00000497965.1:n.1583+40A>G
ENST00000649781.1:c.1583+40A>G	ENSP00000497203.1:n.1583+40A>G
ENST00000003084.10:c.1766+40A>G	ENSP00000003084.6:n.1766+40A>G
ENST00000426809.5:c.1676+40A>G	ENSP00000389119.1:n.1676+40A>G
NM_000492.3:c.1766+40A>G , LRG_663t1:c.1766+40A>G	NP_000483.3:n.1766+40A>G
XM_011515751.1:c.1856+40A>G	XP_011514053.1:n.1856+40A>G
XM_011515752.1:c.1856+40A>G	XP_011514054.1:n.1856+40A>G
XM_011515753.1:c.1523+40A>G	XP_011514055.1:n.1523+40A>G
XM_011515754.1:c.1523+40A>G	XP_011514056.1:n.1523+40A>G
NM_000492.4:c.1766+40A>G MANE Select	NP_000483.3:n.1766+40A>G