Canonical Allele Identifier: CA457231135

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117307066C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667012C>A , CM000669.2:g.117667012C>A	GRCh38
NC_000007.13:g.117307066C>A , CM000669.1:g.117307066C>A	GRCh37
NC_000007.12:g.117094302C>A	NCBI36
NG_016465.4:g.206229C>A , LRG_663:g.206229C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*556C>A	ENSP00000497673.2:n.*556C>A
ENST00000647978.2:c.*4061C>A	ENSP00000497658.1:n.*4061C>A
ENST00000649781.2:c.4164C>A	ENSP00000497203.1:p.Leu1388=
ENST00000685018.2:c.*560C>A	ENSP00000510194.2:n.*560C>A
ENST00000687278.2:c.*896-590C>A	ENSP00000509593.2:n.*896-590C>A
ENST00000699585.1:c.*816C>A	ENSP00000514456.1:n.*816C>A
ENST00000699598.1:c.*53C>A	ENSP00000514467.1:n.*53C>A
ENST00000699599.1:c.*560C>A	ENSP00000514468.1:n.*560C>A
ENST00000699600.1:c.*904-590C>A	ENSP00000514469.1:n.*904-590C>A
ENST00000699601.1:c.*2722C>A	ENSP00000514470.1:n.*2722C>A
ENST00000699602.1:c.4341C>A	ENSP00000514471.1:p.Leu1447=
ENST00000699604.1:c.*4171C>A	ENSP00000514472.1:n.*4171C>A
ENST00000699605.1:c.3921C>A	ENSP00000514473.1:p.Leu1307=
ENST00000699606.1:n.3858C>A
ENST00000685018.1:c.1211C>A	ENSP00000510194.1:n.1211C>A
ENST00000687278.1:c.2030-590C>A	ENSP00000509593.1:n.2030-590C>A
ENST00000689011.1:c.1189C>A
ENST00000003084.11:c.4347C>A MANE Select	ENSP00000003084.6:p.Leu1449=
ENST00000647720.1:c.1797C>A
ENST00000649781.1:c.4164C>A	ENSP00000497203.1:p.Leu1388=
ENST00000003084.10:c.4347C>A	ENSP00000003084.6:p.Leu1449=
ENST00000426809.5:c.4257C>A	ENSP00000389119.1:p.Leu1419=
ENST00000600166.1:c.368+1448C>A
NM_000492.3:c.4347C>A , LRG_663t1:c.4347C>A	NP_000483.3:p.Leu1449=
XM_011515751.1:c.4437C>A	XP_011514053.1:p.Leu1479=
XM_011515753.1:c.4104C>A	XP_011514055.1:p.Leu1368=
XM_011515754.1:c.4104C>A	XP_011514056.1:p.Leu1368=
NM_000492.4:c.4347C>A MANE Select	NP_000483.3:p.Leu1449=