Canonical Allele Identifier: CA368978579

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117292966T>G (hg19) ; chr7:g.117652912T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652912T>G , CM000669.2:g.117652912T>G	GRCh38
NC_000007.13:g.117292966T>G , CM000669.1:g.117292966T>G	GRCh37
NC_000007.12:g.117080202T>G	NCBI36
NG_016465.4:g.192129T>G , LRG_663:g.192129T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*153T>G	ENSP00000497673.2:n.*153T>G
ENST00000647978.2:c.*3658T>G	ENSP00000497658.1:n.*3658T>G
ENST00000649781.2:c.3761T>G	ENSP00000497203.1:p.Ile1254Arg
ENST00000685018.2:c.*157T>G	ENSP00000510194.2:n.*157T>G
ENST00000687278.2:c.*597T>G	ENSP00000509593.2:n.*597T>G
ENST00000699585.1:c.*153T>G	ENSP00000514456.1:n.*153T>G
ENST00000699598.1:c.3944T>G	ENSP00000514467.1:p.Ile1315Arg
ENST00000699599.1:c.*157T>G	ENSP00000514468.1:n.*157T>G
ENST00000699600.1:c.*605T>G	ENSP00000514469.1:n.*605T>G
ENST00000699601.1:c.*2319T>G	ENSP00000514470.1:n.*2319T>G
ENST00000699602.1:c.3938T>G	ENSP00000514471.1:p.Ile1313Arg
ENST00000699604.1:c.*3768T>G	ENSP00000514472.1:n.*3768T>G
ENST00000699605.1:c.3518T>G	ENSP00000514473.1:p.Ile1173Arg
ENST00000699606.1:n.2112T>G
ENST00000685018.1:c.808T>G	ENSP00000510194.1:n.808T>G
ENST00000687278.1:c.1731T>G	ENSP00000509593.1:n.1731T>G
ENST00000689011.1:c.526T>G
ENST00000003084.11:c.3944T>G MANE Select	ENSP00000003084.6:p.Ile1315Arg
ENST00000647720.1:c.1394T>G
ENST00000649781.1:c.3761T>G	ENSP00000497203.1:p.Ile1254Arg
ENST00000003084.10:c.3944T>G	ENSP00000003084.6:p.Ile1315Arg
ENST00000426809.5:c.3854T>G	ENSP00000389119.1:p.Ile1285Arg
ENST00000600166.1:c.70T>G
NM_000492.3:c.3944T>G , LRG_663t1:c.3944T>G	NP_000483.3:p.Ile1315Arg
XM_011515751.1:c.4034T>G	XP_011514053.1:p.Ile1345Arg
XM_011515752.1:c.4034T>G	XP_011514054.1:p.Ile1345Arg
XM_011515753.1:c.3701T>G	XP_011514055.1:p.Ile1234Arg
XM_011515754.1:c.3701T>G	XP_011514056.1:p.Ile1234Arg
NM_000492.4:c.3944T>G MANE Select	NP_000483.3:p.Ile1315Arg