Canonical Allele Identifier: CA457230275

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304774T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664720T>A , CM000669.2:g.117664720T>A	GRCh38
NC_000007.13:g.117304774T>A , CM000669.1:g.117304774T>A	GRCh37
NC_000007.12:g.117092010T>A	NCBI36
NG_016465.4:g.203937T>A , LRG_663:g.203937T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*205T>A	ENSP00000497673.2:n.*205T>A
ENST00000647978.2:c.*3710T>A	ENSP00000497658.1:n.*3710T>A
ENST00000649781.2:c.3813T>A	ENSP00000497203.1:p.Pro1271=
ENST00000685018.2:c.*209T>A	ENSP00000510194.2:n.*209T>A
ENST00000687278.2:c.*649T>A	ENSP00000509593.2:n.*649T>A
ENST00000699585.1:c.*205T>A	ENSP00000514456.1:n.*205T>A
ENST00000699598.1:c.3996T>A	ENSP00000514467.1:p.Pro1332=
ENST00000699599.1:c.*209T>A	ENSP00000514468.1:n.*209T>A
ENST00000699600.1:c.*657T>A	ENSP00000514469.1:n.*657T>A
ENST00000699601.1:c.*2371T>A	ENSP00000514470.1:n.*2371T>A
ENST00000699602.1:c.3990T>A	ENSP00000514471.1:p.Pro1330=
ENST00000699604.1:c.*3820T>A	ENSP00000514472.1:n.*3820T>A
ENST00000699605.1:c.3570T>A	ENSP00000514473.1:p.Pro1190=
ENST00000699606.1:n.2164T>A
ENST00000685018.1:c.860T>A	ENSP00000510194.1:n.860T>A
ENST00000687278.1:c.1783T>A	ENSP00000509593.1:n.1783T>A
ENST00000689011.1:c.578T>A
ENST00000003084.11:c.3996T>A MANE Select	ENSP00000003084.6:p.Pro1332=
ENST00000647720.1:c.1446T>A
ENST00000649781.1:c.3813T>A	ENSP00000497203.1:p.Pro1271=
ENST00000003084.10:c.3996T>A	ENSP00000003084.6:p.Pro1332=
ENST00000426809.5:c.3906T>A	ENSP00000389119.1:p.Pro1302=
ENST00000600166.1:c.122T>A
NM_000492.3:c.3996T>A , LRG_663t1:c.3996T>A	NP_000483.3:p.Pro1332=
XM_011515751.1:c.4086T>A	XP_011514053.1:p.Pro1362=
XM_011515752.1:c.4086T>A	XP_011514054.1:p.Pro1362=
XM_011515753.1:c.3753T>A	XP_011514055.1:p.Pro1251=
XM_011515754.1:c.3753T>A	XP_011514056.1:p.Pro1251=
NM_000492.4:c.3996T>A MANE Select	NP_000483.3:p.Pro1332=