Canonical Allele Identifier: CA1737408447

Gene: CFTR

Linked Data

• dbSNP Id: rs1584850762

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667993A>G , CM000669.2:g.117667993A>G	GRCh38
NC_000007.13:g.117308047A>G , CM000669.1:g.117308047A>G	GRCh37
NC_000007.12:g.117095283A>G	NCBI36
NG_016465.4:g.207210A>G , LRG_663:g.207210A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*1537A>G	ENSP00000497673.2:n.*1537A>G
ENST00000647978.2:c.*5042A>G	ENSP00000497658.1:n.*5042A>G
ENST00000649781.2:c.*885A>G	ENSP00000497203.1:n.*885A>G
ENST00000685018.2:c.*1541A>G	ENSP00000510194.2:n.*1541A>G
ENST00000687278.2:c.*1051+236A>G	ENSP00000509593.2:n.*1051+236A>G
ENST00000699585.1:c.*1797A>G	ENSP00000514456.1:n.*1797A>G
ENST00000699598.1:c.*454+236A>G	ENSP00000514467.1:n.*454+236A>G
ENST00000699599.1:c.*961+236A>G	ENSP00000514468.1:n.*961+236A>G
ENST00000699600.1:c.*1059+236A>G	ENSP00000514469.1:n.*1059+236A>G
ENST00000699601.1:c.*3703A>G	ENSP00000514470.1:n.*3703A>G
ENST00000699602.1:c.*885A>G	ENSP00000514471.1:n.*885A>G
ENST00000699604.1:c.*5152A>G	ENSP00000514472.1:n.*5152A>G
ENST00000699605.1:c.*885A>G	ENSP00000514473.1:n.*885A>G
ENST00000699606.1:n.4839A>G
ENST00000685018.1:c.2192A>G	ENSP00000510194.1:n.2192A>G
ENST00000687278.1:c.2185+236A>G	ENSP00000509593.1:n.2185+236A>G
ENST00000689011.1:c.2170A>G
ENST00000003084.11:c.*885A>G MANE Select	ENSP00000003084.6:n.*885A>G
ENST00000647720.1:c.2778A>G
ENST00000003084.10:c.*885A>G	ENSP00000003084.6:n.*885A>G
ENST00000600166.1:c.368+2429A>G
NM_000492.3:c.*885A>G , LRG_663t1:c.*885A>G	NP_000483.3:n.*885A>G
XM_011515751.1:c.*885A>G	XP_011514053.1:n.*885A>G
XM_011515753.1:c.*885A>G	XP_011514055.1:n.*885A>G
XM_011515754.1:c.*885A>G	XP_011514056.1:n.*885A>G
NM_000492.4:c.*885A>G MANE Select	NP_000483.3:n.*885A>G