Canonical Allele Identifier: CA368984786

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117307035A>G (hg19) ; chr7:g.117666981A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666981A>G , CM000669.2:g.117666981A>G	GRCh38
NC_000007.13:g.117307035A>G , CM000669.1:g.117307035A>G	GRCh37
NC_000007.12:g.117094271A>G	NCBI36
NG_016465.4:g.206198A>G , LRG_663:g.206198A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*525A>G	ENSP00000497673.2:n.*525A>G
ENST00000647978.2:c.*4030A>G	ENSP00000497658.1:n.*4030A>G
ENST00000649781.2:c.4133A>G	ENSP00000497203.1:p.Gln1378Arg
ENST00000685018.2:c.*529A>G	ENSP00000510194.2:n.*529A>G
ENST00000687278.2:c.*896-621A>G	ENSP00000509593.2:n.*896-621A>G
ENST00000699585.1:c.*785A>G	ENSP00000514456.1:n.*785A>G
ENST00000699598.1:c.*22A>G	ENSP00000514467.1:n.*22A>G
ENST00000699599.1:c.*529A>G	ENSP00000514468.1:n.*529A>G
ENST00000699600.1:c.*904-621A>G	ENSP00000514469.1:n.*904-621A>G
ENST00000699601.1:c.*2691A>G	ENSP00000514470.1:n.*2691A>G
ENST00000699602.1:c.4310A>G	ENSP00000514471.1:p.Gln1437Arg
ENST00000699604.1:c.*4140A>G	ENSP00000514472.1:n.*4140A>G
ENST00000699605.1:c.3890A>G	ENSP00000514473.1:p.Gln1297Arg
ENST00000699606.1:n.3827A>G
ENST00000685018.1:c.1180A>G	ENSP00000510194.1:n.1180A>G
ENST00000687278.1:c.2030-621A>G	ENSP00000509593.1:n.2030-621A>G
ENST00000689011.1:c.1158A>G
ENST00000003084.11:c.4316A>G MANE Select	ENSP00000003084.6:p.Gln1439Arg
ENST00000647720.1:c.1766A>G
ENST00000649781.1:c.4133A>G	ENSP00000497203.1:p.Gln1378Arg
ENST00000003084.10:c.4316A>G	ENSP00000003084.6:p.Gln1439Arg
ENST00000426809.5:c.4226A>G	ENSP00000389119.1:p.Gln1409Arg
ENST00000600166.1:c.368+1417A>G
NM_000492.3:c.4316A>G , LRG_663t1:c.4316A>G	NP_000483.3:p.Gln1439Arg
XM_011515751.1:c.4406A>G	XP_011514053.1:p.Gln1469Arg
XM_011515753.1:c.4073A>G	XP_011514055.1:p.Gln1358Arg
XM_011515754.1:c.4073A>G	XP_011514056.1:p.Gln1358Arg
NM_000492.4:c.4316A>G MANE Select	NP_000483.3:p.Gln1439Arg