Canonical Allele Identifier: CA368982726

Gene: CFTR

Linked Data

• gnomAD v4: 7-117664806-T-G
• MyVariant Identifiers: chr7:g.117304860T>G (hg19) ; chr7:g.117664806T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664806T>G , CM000669.2:g.117664806T>G	GRCh38
NC_000007.13:g.117304860T>G , CM000669.1:g.117304860T>G	GRCh37
NC_000007.12:g.117092096T>G	NCBI36
NG_016465.4:g.204023T>G , LRG_663:g.204023T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*291T>G	ENSP00000497673.2:n.*291T>G
ENST00000647978.2:c.*3796T>G	ENSP00000497658.1:n.*3796T>G
ENST00000649781.2:c.3899T>G	ENSP00000497203.1:p.Leu1300Arg
ENST00000685018.2:c.*295T>G	ENSP00000510194.2:n.*295T>G
ENST00000687278.2:c.*735T>G	ENSP00000509593.2:n.*735T>G
ENST00000699585.1:c.*291T>G	ENSP00000514456.1:n.*291T>G
ENST00000699598.1:c.4082T>G	ENSP00000514467.1:p.Leu1361Arg
ENST00000699599.1:c.*295T>G	ENSP00000514468.1:n.*295T>G
ENST00000699600.1:c.*743T>G	ENSP00000514469.1:n.*743T>G
ENST00000699601.1:c.*2457T>G	ENSP00000514470.1:n.*2457T>G
ENST00000699602.1:c.4076T>G	ENSP00000514471.1:p.Leu1359Arg
ENST00000699604.1:c.*3906T>G	ENSP00000514472.1:n.*3906T>G
ENST00000699605.1:c.3656T>G	ENSP00000514473.1:p.Leu1219Arg
ENST00000699606.1:n.2250T>G
ENST00000685018.1:c.946T>G	ENSP00000510194.1:n.946T>G
ENST00000687278.1:c.1869T>G	ENSP00000509593.1:n.1869T>G
ENST00000689011.1:c.664T>G
ENST00000003084.11:c.4082T>G MANE Select	ENSP00000003084.6:p.Leu1361Arg
ENST00000647720.1:c.1532T>G
ENST00000649781.1:c.3899T>G	ENSP00000497203.1:p.Leu1300Arg
ENST00000003084.10:c.4082T>G	ENSP00000003084.6:p.Leu1361Arg
ENST00000426809.5:c.3992T>G	ENSP00000389119.1:p.Leu1331Arg
ENST00000600166.1:c.208T>G
NM_000492.3:c.4082T>G , LRG_663t1:c.4082T>G	NP_000483.3:p.Leu1361Arg
XM_011515751.1:c.4172T>G	XP_011514053.1:p.Leu1391Arg
XM_011515752.1:c.4172T>G	XP_011514054.1:p.Leu1391Arg
XM_011515753.1:c.3839T>G	XP_011514055.1:p.Leu1280Arg
XM_011515754.1:c.3839T>G	XP_011514056.1:p.Leu1280Arg
NM_000492.4:c.4082T>G MANE Select	NP_000483.3:p.Leu1361Arg