Canonical Allele Identifier: CA368982050

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304773C>A (hg19) ; chr7:g.117664719C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664719C>A , CM000669.2:g.117664719C>A	GRCh38
NC_000007.13:g.117304773C>A , CM000669.1:g.117304773C>A	GRCh37
NC_000007.12:g.117092009C>A	NCBI36
NG_016465.4:g.203936C>A , LRG_663:g.203936C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*204C>A	ENSP00000497673.2:n.*204C>A
ENST00000647978.2:c.*3709C>A	ENSP00000497658.1:n.*3709C>A
ENST00000649781.2:c.3812C>A	ENSP00000497203.1:p.Pro1271His
ENST00000685018.2:c.*208C>A	ENSP00000510194.2:n.*208C>A
ENST00000687278.2:c.*648C>A	ENSP00000509593.2:n.*648C>A
ENST00000699585.1:c.*204C>A	ENSP00000514456.1:n.*204C>A
ENST00000699598.1:c.3995C>A	ENSP00000514467.1:p.Pro1332His
ENST00000699599.1:c.*208C>A	ENSP00000514468.1:n.*208C>A
ENST00000699600.1:c.*656C>A	ENSP00000514469.1:n.*656C>A
ENST00000699601.1:c.*2370C>A	ENSP00000514470.1:n.*2370C>A
ENST00000699602.1:c.3989C>A	ENSP00000514471.1:p.Pro1330His
ENST00000699604.1:c.*3819C>A	ENSP00000514472.1:n.*3819C>A
ENST00000699605.1:c.3569C>A	ENSP00000514473.1:p.Pro1190His
ENST00000699606.1:n.2163C>A
ENST00000685018.1:c.859C>A	ENSP00000510194.1:n.859C>A
ENST00000687278.1:c.1782C>A	ENSP00000509593.1:n.1782C>A
ENST00000689011.1:c.577C>A
ENST00000003084.11:c.3995C>A MANE Select	ENSP00000003084.6:p.Pro1332His
ENST00000647720.1:c.1445C>A
ENST00000649781.1:c.3812C>A	ENSP00000497203.1:p.Pro1271His
ENST00000003084.10:c.3995C>A	ENSP00000003084.6:p.Pro1332His
ENST00000426809.5:c.3905C>A	ENSP00000389119.1:p.Pro1302His
ENST00000600166.1:c.121C>A
NM_000492.3:c.3995C>A , LRG_663t1:c.3995C>A	NP_000483.3:p.Pro1332His
XM_011515751.1:c.4085C>A	XP_011514053.1:p.Pro1362His
XM_011515752.1:c.4085C>A	XP_011514054.1:p.Pro1362His
XM_011515753.1:c.3752C>A	XP_011514055.1:p.Pro1251His
XM_011515754.1:c.3752C>A	XP_011514056.1:p.Pro1251His
NM_000492.4:c.3995C>A MANE Select	NP_000483.3:p.Pro1332His