Canonical Allele Identifier: CA368984366

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117306965A>G (hg19) ; chr7:g.117666911A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666911A>G , CM000669.2:g.117666911A>G	GRCh38
NC_000007.13:g.117306965A>G , CM000669.1:g.117306965A>G	GRCh37
NC_000007.12:g.117094201A>G	NCBI36
NG_016465.4:g.206128A>G , LRG_663:g.206128A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*455A>G	ENSP00000497673.2:n.*455A>G
ENST00000647978.2:c.*3960A>G	ENSP00000497658.1:n.*3960A>G
ENST00000649781.2:c.4063A>G	ENSP00000497203.1:p.Ile1355Val
ENST00000685018.2:c.*459A>G	ENSP00000510194.2:n.*459A>G
ENST00000687278.2:c.*896-691A>G	ENSP00000509593.2:n.*896-691A>G
ENST00000699585.1:c.*715A>G	ENSP00000514456.1:n.*715A>G
ENST00000699598.1:c.4243-4A>G	ENSP00000514467.1:n.4243-4A>G
ENST00000699599.1:c.*459A>G	ENSP00000514468.1:n.*459A>G
ENST00000699600.1:c.*904-691A>G	ENSP00000514469.1:n.*904-691A>G
ENST00000699601.1:c.*2621A>G	ENSP00000514470.1:n.*2621A>G
ENST00000699602.1:c.4240A>G	ENSP00000514471.1:p.Ile1414Val
ENST00000699604.1:c.*4070A>G	ENSP00000514472.1:n.*4070A>G
ENST00000699605.1:c.3820A>G	ENSP00000514473.1:p.Ile1274Val
ENST00000699606.1:n.3757A>G
ENST00000685018.1:c.1110A>G	ENSP00000510194.1:n.1110A>G
ENST00000687278.1:c.2030-691A>G	ENSP00000509593.1:n.2030-691A>G
ENST00000689011.1:c.1088A>G
ENST00000003084.11:c.4246A>G MANE Select	ENSP00000003084.6:p.Ile1416Val
ENST00000647720.1:c.1696A>G
ENST00000649781.1:c.4063A>G	ENSP00000497203.1:p.Ile1355Val
ENST00000003084.10:c.4246A>G	ENSP00000003084.6:p.Ile1416Val
ENST00000426809.5:c.4156A>G	ENSP00000389119.1:p.Ile1386Val
ENST00000600166.1:c.368+1347A>G
NM_000492.3:c.4246A>G , LRG_663t1:c.4246A>G	NP_000483.3:p.Ile1416Val
XM_011515751.1:c.4336A>G	XP_011514053.1:p.Ile1446Val
XM_011515753.1:c.4003A>G	XP_011514055.1:p.Ile1335Val
XM_011515754.1:c.4003A>G	XP_011514056.1:p.Ile1335Val
NM_000492.4:c.4246A>G MANE Select	NP_000483.3:p.Ile1416Val