Canonical Allele Identifier: CA368982716

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304859C>A (hg19) ; chr7:g.117664805C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664805C>A , CM000669.2:g.117664805C>A	GRCh38
NC_000007.13:g.117304859C>A , CM000669.1:g.117304859C>A	GRCh37
NC_000007.12:g.117092095C>A	NCBI36
NG_016465.4:g.204022C>A , LRG_663:g.204022C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*290C>A	ENSP00000497673.2:n.*290C>A
ENST00000647978.2:c.*3795C>A	ENSP00000497658.1:n.*3795C>A
ENST00000649781.2:c.3898C>A	ENSP00000497203.1:p.Leu1300Ile
ENST00000685018.2:c.*294C>A	ENSP00000510194.2:n.*294C>A
ENST00000687278.2:c.*734C>A	ENSP00000509593.2:n.*734C>A
ENST00000699585.1:c.*290C>A	ENSP00000514456.1:n.*290C>A
ENST00000699598.1:c.4081C>A	ENSP00000514467.1:p.Leu1361Ile
ENST00000699599.1:c.*294C>A	ENSP00000514468.1:n.*294C>A
ENST00000699600.1:c.*742C>A	ENSP00000514469.1:n.*742C>A
ENST00000699601.1:c.*2456C>A	ENSP00000514470.1:n.*2456C>A
ENST00000699602.1:c.4075C>A	ENSP00000514471.1:p.Leu1359Ile
ENST00000699604.1:c.*3905C>A	ENSP00000514472.1:n.*3905C>A
ENST00000699605.1:c.3655C>A	ENSP00000514473.1:p.Leu1219Ile
ENST00000699606.1:n.2249C>A
ENST00000685018.1:c.945C>A	ENSP00000510194.1:n.945C>A
ENST00000687278.1:c.1868C>A	ENSP00000509593.1:n.1868C>A
ENST00000689011.1:c.663C>A
ENST00000003084.11:c.4081C>A MANE Select	ENSP00000003084.6:p.Leu1361Ile
ENST00000647720.1:c.1531C>A
ENST00000649781.1:c.3898C>A	ENSP00000497203.1:p.Leu1300Ile
ENST00000003084.10:c.4081C>A	ENSP00000003084.6:p.Leu1361Ile
ENST00000426809.5:c.3991C>A	ENSP00000389119.1:p.Leu1331Ile
ENST00000600166.1:c.207C>A
NM_000492.3:c.4081C>A , LRG_663t1:c.4081C>A	NP_000483.3:p.Leu1361Ile
XM_011515751.1:c.4171C>A	XP_011514053.1:p.Leu1391Ile
XM_011515752.1:c.4171C>A	XP_011514054.1:p.Leu1391Ile
XM_011515753.1:c.3838C>A	XP_011514055.1:p.Leu1280Ile
XM_011515754.1:c.3838C>A	XP_011514056.1:p.Leu1280Ile
NM_000492.4:c.4081C>A MANE Select	NP_000483.3:p.Leu1361Ile