Canonical Allele Identifier: CA368981898

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304761T>G (hg19) ; chr7:g.117664707T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664707T>G , CM000669.2:g.117664707T>G	GRCh38
NC_000007.13:g.117304761T>G , CM000669.1:g.117304761T>G	GRCh37
NC_000007.12:g.117091997T>G	NCBI36
NG_016465.4:g.203924T>G , LRG_663:g.203924T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*192T>G	ENSP00000497673.2:n.*192T>G
ENST00000647978.2:c.*3697T>G	ENSP00000497658.1:n.*3697T>G
ENST00000649781.2:c.3800T>G	ENSP00000497203.1:p.Ile1267Arg
ENST00000685018.2:c.*196T>G	ENSP00000510194.2:n.*196T>G
ENST00000687278.2:c.*636T>G	ENSP00000509593.2:n.*636T>G
ENST00000699585.1:c.*192T>G	ENSP00000514456.1:n.*192T>G
ENST00000699598.1:c.3983T>G	ENSP00000514467.1:p.Ile1328Arg
ENST00000699599.1:c.*196T>G	ENSP00000514468.1:n.*196T>G
ENST00000699600.1:c.*644T>G	ENSP00000514469.1:n.*644T>G
ENST00000699601.1:c.*2358T>G	ENSP00000514470.1:n.*2358T>G
ENST00000699602.1:c.3977T>G	ENSP00000514471.1:p.Ile1326Arg
ENST00000699604.1:c.*3807T>G	ENSP00000514472.1:n.*3807T>G
ENST00000699605.1:c.3557T>G	ENSP00000514473.1:p.Ile1186Arg
ENST00000699606.1:n.2151T>G
ENST00000685018.1:c.847T>G	ENSP00000510194.1:n.847T>G
ENST00000687278.1:c.1770T>G	ENSP00000509593.1:n.1770T>G
ENST00000689011.1:c.565T>G
ENST00000003084.11:c.3983T>G MANE Select	ENSP00000003084.6:p.Ile1328Arg
ENST00000647720.1:c.1433T>G
ENST00000649781.1:c.3800T>G	ENSP00000497203.1:p.Ile1267Arg
ENST00000003084.10:c.3983T>G	ENSP00000003084.6:p.Ile1328Arg
ENST00000426809.5:c.3893T>G	ENSP00000389119.1:p.Ile1298Arg
ENST00000600166.1:c.109T>G
NM_000492.3:c.3983T>G , LRG_663t1:c.3983T>G	NP_000483.3:p.Ile1328Arg
XM_011515751.1:c.4073T>G	XP_011514053.1:p.Ile1358Arg
XM_011515752.1:c.4073T>G	XP_011514054.1:p.Ile1358Arg
XM_011515753.1:c.3740T>G	XP_011514055.1:p.Ile1247Arg
XM_011515754.1:c.3740T>G	XP_011514056.1:p.Ile1247Arg
NM_000492.4:c.3983T>G MANE Select	NP_000483.3:p.Ile1328Arg