Canonical Allele Identifier: CA368982418

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304814C>A (hg19) ; chr7:g.117664760C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664760C>A , CM000669.2:g.117664760C>A	GRCh38
NC_000007.13:g.117304814C>A , CM000669.1:g.117304814C>A	GRCh37
NC_000007.12:g.117092050C>A	NCBI36
NG_016465.4:g.203977C>A , LRG_663:g.203977C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*245C>A	ENSP00000497673.2:n.*245C>A
ENST00000647978.2:c.*3750C>A	ENSP00000497658.1:n.*3750C>A
ENST00000649781.2:c.3853C>A	ENSP00000497203.1:p.Leu1285Ile
ENST00000685018.2:c.*249C>A	ENSP00000510194.2:n.*249C>A
ENST00000687278.2:c.*689C>A	ENSP00000509593.2:n.*689C>A
ENST00000699585.1:c.*245C>A	ENSP00000514456.1:n.*245C>A
ENST00000699598.1:c.4036C>A	ENSP00000514467.1:p.Leu1346Ile
ENST00000699599.1:c.*249C>A	ENSP00000514468.1:n.*249C>A
ENST00000699600.1:c.*697C>A	ENSP00000514469.1:n.*697C>A
ENST00000699601.1:c.*2411C>A	ENSP00000514470.1:n.*2411C>A
ENST00000699602.1:c.4030C>A	ENSP00000514471.1:p.Leu1344Ile
ENST00000699604.1:c.*3860C>A	ENSP00000514472.1:n.*3860C>A
ENST00000699605.1:c.3610C>A	ENSP00000514473.1:p.Leu1204Ile
ENST00000699606.1:n.2204C>A
ENST00000685018.1:c.900C>A	ENSP00000510194.1:n.900C>A
ENST00000687278.1:c.1823C>A	ENSP00000509593.1:n.1823C>A
ENST00000689011.1:c.618C>A
ENST00000003084.11:c.4036C>A MANE Select	ENSP00000003084.6:p.Leu1346Ile
ENST00000647720.1:c.1486C>A
ENST00000649781.1:c.3853C>A	ENSP00000497203.1:p.Leu1285Ile
ENST00000003084.10:c.4036C>A	ENSP00000003084.6:p.Leu1346Ile
ENST00000426809.5:c.3946C>A	ENSP00000389119.1:p.Leu1316Ile
ENST00000600166.1:c.162C>A
NM_000492.3:c.4036C>A , LRG_663t1:c.4036C>A	NP_000483.3:p.Leu1346Ile
XM_011515751.1:c.4126C>A	XP_011514053.1:p.Leu1376Ile
XM_011515752.1:c.4126C>A	XP_011514054.1:p.Leu1376Ile
XM_011515753.1:c.3793C>A	XP_011514055.1:p.Leu1265Ile
XM_011515754.1:c.3793C>A	XP_011514056.1:p.Leu1265Ile
NM_000492.4:c.4036C>A MANE Select	NP_000483.3:p.Leu1346Ile