Canonical Allele Identifier: CA368984556

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117307001C>A (hg19) ; chr7:g.117666947C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666947C>A , CM000669.2:g.117666947C>A	GRCh38
NC_000007.13:g.117307001C>A , CM000669.1:g.117307001C>A	GRCh37
NC_000007.12:g.117094237C>A	NCBI36
NG_016465.4:g.206164C>A , LRG_663:g.206164C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*491C>A	ENSP00000497673.2:n.*491C>A
ENST00000647978.2:c.*3996C>A	ENSP00000497658.1:n.*3996C>A
ENST00000649781.2:c.4099C>A	ENSP00000497203.1:p.Gln1367Lys
ENST00000685018.2:c.*495C>A	ENSP00000510194.2:n.*495C>A
ENST00000687278.2:c.*896-655C>A	ENSP00000509593.2:n.*896-655C>A
ENST00000699585.1:c.*751C>A	ENSP00000514456.1:n.*751C>A
ENST00000699598.1:c.4275C>A	ENSP00000514467.1:p.Ser1425=
ENST00000699599.1:c.*495C>A	ENSP00000514468.1:n.*495C>A
ENST00000699600.1:c.*904-655C>A	ENSP00000514469.1:n.*904-655C>A
ENST00000699601.1:c.*2657C>A	ENSP00000514470.1:n.*2657C>A
ENST00000699602.1:c.4276C>A	ENSP00000514471.1:p.Gln1426Lys
ENST00000699604.1:c.*4106C>A	ENSP00000514472.1:n.*4106C>A
ENST00000699605.1:c.3856C>A	ENSP00000514473.1:p.Gln1286Lys
ENST00000699606.1:n.3793C>A
ENST00000685018.1:c.1146C>A	ENSP00000510194.1:n.1146C>A
ENST00000687278.1:c.2030-655C>A	ENSP00000509593.1:n.2030-655C>A
ENST00000689011.1:c.1124C>A
ENST00000003084.11:c.4282C>A MANE Select	ENSP00000003084.6:p.Gln1428Lys
ENST00000647720.1:c.1732C>A
ENST00000649781.1:c.4099C>A	ENSP00000497203.1:p.Gln1367Lys
ENST00000003084.10:c.4282C>A	ENSP00000003084.6:p.Gln1428Lys
ENST00000426809.5:c.4192C>A	ENSP00000389119.1:p.Gln1398Lys
ENST00000600166.1:c.368+1383C>A
NM_000492.3:c.4282C>A , LRG_663t1:c.4282C>A	NP_000483.3:p.Gln1428Lys
XM_011515751.1:c.4372C>A	XP_011514053.1:p.Gln1458Lys
XM_011515753.1:c.4039C>A	XP_011514055.1:p.Gln1347Lys
XM_011515754.1:c.4039C>A	XP_011514056.1:p.Gln1347Lys
NM_000492.4:c.4282C>A MANE Select	NP_000483.3:p.Gln1428Lys