Canonical Allele Identifier: CA457231138

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117307072C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667018C>G , CM000669.2:g.117667018C>G	GRCh38
NC_000007.13:g.117307072C>G , CM000669.1:g.117307072C>G	GRCh37
NC_000007.12:g.117094308C>G	NCBI36
NG_016465.4:g.206235C>G , LRG_663:g.206235C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*562C>G	ENSP00000497673.2:n.*562C>G
ENST00000647978.2:c.*4067C>G	ENSP00000497658.1:n.*4067C>G
ENST00000649781.2:c.4170C>G	ENSP00000497203.1:p.Pro1390=
ENST00000685018.2:c.*566C>G	ENSP00000510194.2:n.*566C>G
ENST00000687278.2:c.*896-584C>G	ENSP00000509593.2:n.*896-584C>G
ENST00000699585.1:c.*822C>G	ENSP00000514456.1:n.*822C>G
ENST00000699598.1:c.*59C>G	ENSP00000514467.1:n.*59C>G
ENST00000699599.1:c.*566C>G	ENSP00000514468.1:n.*566C>G
ENST00000699600.1:c.*904-584C>G	ENSP00000514469.1:n.*904-584C>G
ENST00000699601.1:c.*2728C>G	ENSP00000514470.1:n.*2728C>G
ENST00000699602.1:c.4347C>G	ENSP00000514471.1:p.Pro1449=
ENST00000699604.1:c.*4177C>G	ENSP00000514472.1:n.*4177C>G
ENST00000699605.1:c.3927C>G	ENSP00000514473.1:p.Pro1309=
ENST00000699606.1:n.3864C>G
ENST00000685018.1:c.1217C>G	ENSP00000510194.1:n.1217C>G
ENST00000687278.1:c.2030-584C>G	ENSP00000509593.1:n.2030-584C>G
ENST00000689011.1:c.1195C>G
ENST00000003084.11:c.4353C>G MANE Select	ENSP00000003084.6:p.Pro1451=
ENST00000647720.1:c.1803C>G
ENST00000649781.1:c.4170C>G	ENSP00000497203.1:p.Pro1390=
ENST00000003084.10:c.4353C>G	ENSP00000003084.6:p.Pro1451=
ENST00000426809.5:c.4263C>G	ENSP00000389119.1:p.Pro1421=
ENST00000600166.1:c.368+1454C>G
NM_000492.3:c.4353C>G , LRG_663t1:c.4353C>G	NP_000483.3:p.Pro1451=
XM_011515751.1:c.4443C>G	XP_011514053.1:p.Pro1481=
XM_011515753.1:c.4110C>G	XP_011514055.1:p.Pro1370=
XM_011515754.1:c.4110C>G	XP_011514056.1:p.Pro1370=
NM_000492.4:c.4353C>G MANE Select	NP_000483.3:p.Pro1451=