Canonical Allele Identifier: CA2684648944

Gene: CFTR

Linked Data

• gnomAD v4: 7-117652779-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652779A>G , CM000669.2:g.117652779A>G	GRCh38
NC_000007.13:g.117292833A>G , CM000669.1:g.117292833A>G	GRCh37
NC_000007.12:g.117080069A>G	NCBI36
NG_016465.4:g.191996A>G , LRG_663:g.191996A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*83-63A>G	ENSP00000497673.2:n.*83-63A>G
ENST00000647978.2:c.*3588-63A>G	ENSP00000497658.1:n.*3588-63A>G
ENST00000649781.2:c.3691-63A>G	ENSP00000497203.1:n.3691-63A>G
ENST00000685018.2:c.*87-63A>G	ENSP00000510194.2:n.*87-63A>G
ENST00000687278.2:c.*527-63A>G	ENSP00000509593.2:n.*527-63A>G
ENST00000699585.1:c.*83-63A>G	ENSP00000514456.1:n.*83-63A>G
ENST00000699598.1:c.3874-63A>G	ENSP00000514467.1:n.3874-63A>G
ENST00000699599.1:c.*87-63A>G	ENSP00000514468.1:n.*87-63A>G
ENST00000699600.1:c.*535-63A>G	ENSP00000514469.1:n.*535-63A>G
ENST00000699601.1:c.*2249-63A>G	ENSP00000514470.1:n.*2249-63A>G
ENST00000699602.1:c.3868-63A>G	ENSP00000514471.1:n.3868-63A>G
ENST00000699604.1:c.*3698-63A>G	ENSP00000514472.1:n.*3698-63A>G
ENST00000699605.1:c.3448-63A>G	ENSP00000514473.1:n.3448-63A>G
ENST00000699606.1:n.1979A>G
ENST00000685018.1:c.738-63A>G	ENSP00000510194.1:n.738-63A>G
ENST00000687278.1:c.1661-63A>G	ENSP00000509593.1:n.1661-63A>G
ENST00000689011.1:c.456-63A>G
ENST00000003084.11:c.3874-63A>G MANE Select	ENSP00000003084.6:n.3874-63A>G
ENST00000647720.1:c.1324-63A>G
ENST00000649781.1:c.3691-63A>G	ENSP00000497203.1:n.3691-63A>G
ENST00000003084.10:c.3874-63A>G	ENSP00000003084.6:n.3874-63A>G
ENST00000426809.5:c.3784-63A>G	ENSP00000389119.1:n.3784-63A>G
NM_000492.3:c.3874-63A>G , LRG_663t1:c.3874-63A>G	NP_000483.3:n.3874-63A>G
XM_011515751.1:c.3964-63A>G	XP_011514053.1:n.3964-63A>G
XM_011515752.1:c.3964-63A>G	XP_011514054.1:n.3964-63A>G
XM_011515753.1:c.3631-63A>G	XP_011514055.1:n.3631-63A>G
XM_011515754.1:c.3631-63A>G	XP_011514056.1:n.3631-63A>G
NM_000492.4:c.3874-63A>G MANE Select	NP_000483.3:n.3874-63A>G