Canonical Allele Identifier: CA368982444

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304815T>G (hg19) ; chr7:g.117664761T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664761T>G , CM000669.2:g.117664761T>G	GRCh38
NC_000007.13:g.117304815T>G , CM000669.1:g.117304815T>G	GRCh37
NC_000007.12:g.117092051T>G	NCBI36
NG_016465.4:g.203978T>G , LRG_663:g.203978T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*246T>G	ENSP00000497673.2:n.*246T>G
ENST00000647978.2:c.*3751T>G	ENSP00000497658.1:n.*3751T>G
ENST00000649781.2:c.3854T>G	ENSP00000497203.1:p.Leu1285Arg
ENST00000685018.2:c.*250T>G	ENSP00000510194.2:n.*250T>G
ENST00000687278.2:c.*690T>G	ENSP00000509593.2:n.*690T>G
ENST00000699585.1:c.*246T>G	ENSP00000514456.1:n.*246T>G
ENST00000699598.1:c.4037T>G	ENSP00000514467.1:p.Leu1346Arg
ENST00000699599.1:c.*250T>G	ENSP00000514468.1:n.*250T>G
ENST00000699600.1:c.*698T>G	ENSP00000514469.1:n.*698T>G
ENST00000699601.1:c.*2412T>G	ENSP00000514470.1:n.*2412T>G
ENST00000699602.1:c.4031T>G	ENSP00000514471.1:p.Leu1344Arg
ENST00000699604.1:c.*3861T>G	ENSP00000514472.1:n.*3861T>G
ENST00000699605.1:c.3611T>G	ENSP00000514473.1:p.Leu1204Arg
ENST00000699606.1:n.2205T>G
ENST00000685018.1:c.901T>G	ENSP00000510194.1:n.901T>G
ENST00000687278.1:c.1824T>G	ENSP00000509593.1:n.1824T>G
ENST00000689011.1:c.619T>G
ENST00000003084.11:c.4037T>G MANE Select	ENSP00000003084.6:p.Leu1346Arg
ENST00000647720.1:c.1487T>G
ENST00000649781.1:c.3854T>G	ENSP00000497203.1:p.Leu1285Arg
ENST00000003084.10:c.4037T>G	ENSP00000003084.6:p.Leu1346Arg
ENST00000426809.5:c.3947T>G	ENSP00000389119.1:p.Leu1316Arg
ENST00000600166.1:c.163T>G
NM_000492.3:c.4037T>G , LRG_663t1:c.4037T>G	NP_000483.3:p.Leu1346Arg
XM_011515751.1:c.4127T>G	XP_011514053.1:p.Leu1376Arg
XM_011515752.1:c.4127T>G	XP_011514054.1:p.Leu1376Arg
XM_011515753.1:c.3794T>G	XP_011514055.1:p.Leu1265Arg
XM_011515754.1:c.3794T>G	XP_011514056.1:p.Leu1265Arg
NM_000492.4:c.4037T>G MANE Select	NP_000483.3:p.Leu1346Arg