Canonical Allele Identifier: CA457230285

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304792C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664738C>A , CM000669.2:g.117664738C>A	GRCh38
NC_000007.13:g.117304792C>A , CM000669.1:g.117304792C>A	GRCh37
NC_000007.12:g.117092028C>A	NCBI36
NG_016465.4:g.203955C>A , LRG_663:g.203955C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*223C>A	ENSP00000497673.2:n.*223C>A
ENST00000647978.2:c.*3728C>A	ENSP00000497658.1:n.*3728C>A
ENST00000649781.2:c.3831C>A	ENSP00000497203.1:p.Val1277=
ENST00000685018.2:c.*227C>A	ENSP00000510194.2:n.*227C>A
ENST00000687278.2:c.*667C>A	ENSP00000509593.2:n.*667C>A
ENST00000699585.1:c.*223C>A	ENSP00000514456.1:n.*223C>A
ENST00000699598.1:c.4014C>A	ENSP00000514467.1:p.Val1338=
ENST00000699599.1:c.*227C>A	ENSP00000514468.1:n.*227C>A
ENST00000699600.1:c.*675C>A	ENSP00000514469.1:n.*675C>A
ENST00000699601.1:c.*2389C>A	ENSP00000514470.1:n.*2389C>A
ENST00000699602.1:c.4008C>A	ENSP00000514471.1:p.Val1336=
ENST00000699604.1:c.*3838C>A	ENSP00000514472.1:n.*3838C>A
ENST00000699605.1:c.3588C>A	ENSP00000514473.1:p.Val1196=
ENST00000699606.1:n.2182C>A
ENST00000685018.1:c.878C>A	ENSP00000510194.1:n.878C>A
ENST00000687278.1:c.1801C>A	ENSP00000509593.1:n.1801C>A
ENST00000689011.1:c.596C>A
ENST00000003084.11:c.4014C>A MANE Select	ENSP00000003084.6:p.Val1338=
ENST00000647720.1:c.1464C>A
ENST00000649781.1:c.3831C>A	ENSP00000497203.1:p.Val1277=
ENST00000003084.10:c.4014C>A	ENSP00000003084.6:p.Val1338=
ENST00000426809.5:c.3924C>A	ENSP00000389119.1:p.Val1308=
ENST00000600166.1:c.140C>A
NM_000492.3:c.4014C>A , LRG_663t1:c.4014C>A	NP_000483.3:p.Val1338=
XM_011515751.1:c.4104C>A	XP_011514053.1:p.Val1368=
XM_011515752.1:c.4104C>A	XP_011514054.1:p.Val1368=
XM_011515753.1:c.3771C>A	XP_011514055.1:p.Val1257=
XM_011515754.1:c.3771C>A	XP_011514056.1:p.Val1257=
NM_000492.4:c.4014C>A MANE Select	NP_000483.3:p.Val1338=