Canonical Allele Identifier: CA368982224

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304793C>A (hg19) ; chr7:g.117664739C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664739C>A , CM000669.2:g.117664739C>A	GRCh38
NC_000007.13:g.117304793C>A , CM000669.1:g.117304793C>A	GRCh37
NC_000007.12:g.117092029C>A	NCBI36
NG_016465.4:g.203956C>A , LRG_663:g.203956C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*224C>A	ENSP00000497673.2:n.*224C>A
ENST00000647978.2:c.*3729C>A	ENSP00000497658.1:n.*3729C>A
ENST00000649781.2:c.3832C>A	ENSP00000497203.1:p.Leu1278Ile
ENST00000685018.2:c.*228C>A	ENSP00000510194.2:n.*228C>A
ENST00000687278.2:c.*668C>A	ENSP00000509593.2:n.*668C>A
ENST00000699585.1:c.*224C>A	ENSP00000514456.1:n.*224C>A
ENST00000699598.1:c.4015C>A	ENSP00000514467.1:p.Leu1339Ile
ENST00000699599.1:c.*228C>A	ENSP00000514468.1:n.*228C>A
ENST00000699600.1:c.*676C>A	ENSP00000514469.1:n.*676C>A
ENST00000699601.1:c.*2390C>A	ENSP00000514470.1:n.*2390C>A
ENST00000699602.1:c.4009C>A	ENSP00000514471.1:p.Leu1337Ile
ENST00000699604.1:c.*3839C>A	ENSP00000514472.1:n.*3839C>A
ENST00000699605.1:c.3589C>A	ENSP00000514473.1:p.Leu1197Ile
ENST00000699606.1:n.2183C>A
ENST00000685018.1:c.879C>A	ENSP00000510194.1:n.879C>A
ENST00000687278.1:c.1802C>A	ENSP00000509593.1:n.1802C>A
ENST00000689011.1:c.597C>A
ENST00000003084.11:c.4015C>A MANE Select	ENSP00000003084.6:p.Leu1339Ile
ENST00000647720.1:c.1465C>A
ENST00000649781.1:c.3832C>A	ENSP00000497203.1:p.Leu1278Ile
ENST00000003084.10:c.4015C>A	ENSP00000003084.6:p.Leu1339Ile
ENST00000426809.5:c.3925C>A	ENSP00000389119.1:p.Leu1309Ile
ENST00000600166.1:c.141C>A
NM_000492.3:c.4015C>A , LRG_663t1:c.4015C>A	NP_000483.3:p.Leu1339Ile
XM_011515751.1:c.4105C>A	XP_011514053.1:p.Leu1369Ile
XM_011515752.1:c.4105C>A	XP_011514054.1:p.Leu1369Ile
XM_011515753.1:c.3772C>A	XP_011514055.1:p.Leu1258Ile
XM_011515754.1:c.3772C>A	XP_011514056.1:p.Leu1258Ile
NM_000492.4:c.4015C>A MANE Select	NP_000483.3:p.Leu1339Ile