Canonical Allele Identifier: CA457230307

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304816A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664762A>G , CM000669.2:g.117664762A>G	GRCh38
NC_000007.13:g.117304816A>G , CM000669.1:g.117304816A>G	GRCh37
NC_000007.12:g.117092052A>G	NCBI36
NG_016465.4:g.203979A>G , LRG_663:g.203979A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*247A>G	ENSP00000497673.2:n.*247A>G
ENST00000647978.2:c.*3752A>G	ENSP00000497658.1:n.*3752A>G
ENST00000649781.2:c.3855A>G	ENSP00000497203.1:p.Leu1285=
ENST00000685018.2:c.*251A>G	ENSP00000510194.2:n.*251A>G
ENST00000687278.2:c.*691A>G	ENSP00000509593.2:n.*691A>G
ENST00000699585.1:c.*247A>G	ENSP00000514456.1:n.*247A>G
ENST00000699598.1:c.4038A>G	ENSP00000514467.1:p.Leu1346=
ENST00000699599.1:c.*251A>G	ENSP00000514468.1:n.*251A>G
ENST00000699600.1:c.*699A>G	ENSP00000514469.1:n.*699A>G
ENST00000699601.1:c.*2413A>G	ENSP00000514470.1:n.*2413A>G
ENST00000699602.1:c.4032A>G	ENSP00000514471.1:p.Leu1344=
ENST00000699604.1:c.*3862A>G	ENSP00000514472.1:n.*3862A>G
ENST00000699605.1:c.3612A>G	ENSP00000514473.1:p.Leu1204=
ENST00000699606.1:n.2206A>G
ENST00000685018.1:c.902A>G	ENSP00000510194.1:n.902A>G
ENST00000687278.1:c.1825A>G	ENSP00000509593.1:n.1825A>G
ENST00000689011.1:c.620A>G
ENST00000003084.11:c.4038A>G MANE Select	ENSP00000003084.6:p.Leu1346=
ENST00000647720.1:c.1488A>G
ENST00000649781.1:c.3855A>G	ENSP00000497203.1:p.Leu1285=
ENST00000003084.10:c.4038A>G	ENSP00000003084.6:p.Leu1346=
ENST00000426809.5:c.3948A>G	ENSP00000389119.1:p.Leu1316=
ENST00000600166.1:c.164A>G
NM_000492.3:c.4038A>G , LRG_663t1:c.4038A>G	NP_000483.3:p.Leu1346=
XM_011515751.1:c.4128A>G	XP_011514053.1:p.Leu1376=
XM_011515752.1:c.4128A>G	XP_011514054.1:p.Leu1376=
XM_011515753.1:c.3795A>G	XP_011514055.1:p.Leu1265=
XM_011515754.1:c.3795A>G	XP_011514056.1:p.Leu1265=
NM_000492.4:c.4038A>G MANE Select	NP_000483.3:p.Leu1346=