Canonical Allele Identifier: CA368985149

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117307087C>A (hg19) ; chr7:g.117667033C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667033C>A , CM000669.2:g.117667033C>A	GRCh38
NC_000007.13:g.117307087C>A , CM000669.1:g.117307087C>A	GRCh37
NC_000007.12:g.117094323C>A	NCBI36
NG_016465.4:g.206250C>A , LRG_663:g.206250C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*577C>A	ENSP00000497673.2:n.*577C>A
ENST00000647978.2:c.*4082C>A	ENSP00000497658.1:n.*4082C>A
ENST00000649781.2:c.4185C>A	ENSP00000497203.1:p.Ser1395Arg
ENST00000685018.2:c.*581C>A	ENSP00000510194.2:n.*581C>A
ENST00000687278.2:c.*896-569C>A	ENSP00000509593.2:n.*896-569C>A
ENST00000699585.1:c.*837C>A	ENSP00000514456.1:n.*837C>A
ENST00000699598.1:c.*74C>A	ENSP00000514467.1:n.*74C>A
ENST00000699599.1:c.*581C>A	ENSP00000514468.1:n.*581C>A
ENST00000699600.1:c.*904-569C>A	ENSP00000514469.1:n.*904-569C>A
ENST00000699601.1:c.*2743C>A	ENSP00000514470.1:n.*2743C>A
ENST00000699602.1:c.4362C>A	ENSP00000514471.1:p.Ser1454Arg
ENST00000699604.1:c.*4192C>A	ENSP00000514472.1:n.*4192C>A
ENST00000699605.1:c.3942C>A	ENSP00000514473.1:p.Ser1314Arg
ENST00000699606.1:n.3879C>A
ENST00000685018.1:c.1232C>A	ENSP00000510194.1:n.1232C>A
ENST00000687278.1:c.2030-569C>A	ENSP00000509593.1:n.2030-569C>A
ENST00000689011.1:c.1210C>A
ENST00000003084.11:c.4368C>A MANE Select	ENSP00000003084.6:p.Ser1456Arg
ENST00000647720.1:c.1818C>A
ENST00000649781.1:c.4185C>A	ENSP00000497203.1:p.Ser1395Arg
ENST00000003084.10:c.4368C>A	ENSP00000003084.6:p.Ser1456Arg
ENST00000426809.5:c.4278C>A	ENSP00000389119.1:p.Ser1426Arg
ENST00000600166.1:c.368+1469C>A
NM_000492.3:c.4368C>A , LRG_663t1:c.4368C>A	NP_000483.3:p.Ser1456Arg
XM_011515751.1:c.4458C>A	XP_011514053.1:p.Ser1486Arg
XM_011515753.1:c.4125C>A	XP_011514055.1:p.Ser1375Arg
XM_011515754.1:c.4125C>A	XP_011514056.1:p.Ser1375Arg
NM_000492.4:c.4368C>A MANE Select	NP_000483.3:p.Ser1456Arg