Canonical Allele Identifier: CA4451606

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2447420
• ClinVar RCV Id: RCV003176436 ; RCV003936717
• dbSNP Id: rs755917129
• ExAC: 7:117304762 A / G
• gnomAD v2: 7-117304762-A-G
• gnomAD v3: 7-117664708-A-G
• gnomAD v4: 7-117664708-A-G
• MyVariant Identifiers: chr7:g.117304762A>G (hg19) ; chr7:g.117664708A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664708A>G , CM000669.2:g.117664708A>G	GRCh38
NC_000007.13:g.117304762A>G , CM000669.1:g.117304762A>G	GRCh37
NC_000007.12:g.117091998A>G	NCBI36
NG_016465.4:g.203925A>G , LRG_663:g.203925A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*193A>G	ENSP00000497673.2:n.*193A>G
ENST00000647978.2:c.*3698A>G	ENSP00000497658.1:n.*3698A>G
ENST00000649781.2:c.3801A>G	ENSP00000497203.1:p.Ile1267Met
ENST00000685018.2:c.*197A>G	ENSP00000510194.2:n.*197A>G
ENST00000687278.2:c.*637A>G	ENSP00000509593.2:n.*637A>G
ENST00000699585.1:c.*193A>G	ENSP00000514456.1:n.*193A>G
ENST00000699598.1:c.3984A>G	ENSP00000514467.1:p.Ile1328Met
ENST00000699599.1:c.*197A>G	ENSP00000514468.1:n.*197A>G
ENST00000699600.1:c.*645A>G	ENSP00000514469.1:n.*645A>G
ENST00000699601.1:c.*2359A>G	ENSP00000514470.1:n.*2359A>G
ENST00000699602.1:c.3978A>G	ENSP00000514471.1:p.Ile1326Met
ENST00000699604.1:c.*3808A>G	ENSP00000514472.1:n.*3808A>G
ENST00000699605.1:c.3558A>G	ENSP00000514473.1:p.Ile1186Met
ENST00000699606.1:n.2152A>G
ENST00000685018.1:c.848A>G	ENSP00000510194.1:n.848A>G
ENST00000687278.1:c.1771A>G	ENSP00000509593.1:n.1771A>G
ENST00000689011.1:c.566A>G
ENST00000003084.11:c.3984A>G MANE Select	ENSP00000003084.6:p.Ile1328Met
ENST00000647720.1:c.1434A>G
ENST00000649781.1:c.3801A>G	ENSP00000497203.1:p.Ile1267Met
ENST00000003084.10:c.3984A>G	ENSP00000003084.6:p.Ile1328Met
ENST00000426809.5:c.3894A>G	ENSP00000389119.1:p.Ile1298Met
ENST00000600166.1:c.110A>G
NM_000492.3:c.3984A>G , LRG_663t1:c.3984A>G	NP_000483.3:p.Ile1328Met
XM_011515751.1:c.4074A>G	XP_011514053.1:p.Ile1358Met
XM_011515752.1:c.4074A>G	XP_011514054.1:p.Ile1358Met
XM_011515753.1:c.3741A>G	XP_011514055.1:p.Ile1247Met
XM_011515754.1:c.3741A>G	XP_011514056.1:p.Ile1247Met
NM_000492.4:c.3984A>G MANE Select	NP_000483.3:p.Ile1328Met