Canonical Allele Identifier: CA368982319

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2920859
• ClinVar RCV Id: RCV003736416
• dbSNP Id: rs1245455454
• MyVariant Identifiers: chr7:g.117304803G>A (hg19) ; chr7:g.117664749G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664749G>A , CM000669.2:g.117664749G>A	GRCh38
NC_000007.13:g.117304803G>A , CM000669.1:g.117304803G>A	GRCh37
NC_000007.12:g.117092039G>A	NCBI36
NG_016465.4:g.203966G>A , LRG_663:g.203966G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*234G>A	ENSP00000497673.2:n.*234G>A
ENST00000647978.2:c.*3739G>A	ENSP00000497658.1:n.*3739G>A
ENST00000649781.2:c.3842G>A	ENSP00000497203.1:p.Gly1281Glu
ENST00000685018.2:c.*238G>A	ENSP00000510194.2:n.*238G>A
ENST00000687278.2:c.*678G>A	ENSP00000509593.2:n.*678G>A
ENST00000699585.1:c.*234G>A	ENSP00000514456.1:n.*234G>A
ENST00000699598.1:c.4025G>A	ENSP00000514467.1:p.Gly1342Glu
ENST00000699599.1:c.*238G>A	ENSP00000514468.1:n.*238G>A
ENST00000699600.1:c.*686G>A	ENSP00000514469.1:n.*686G>A
ENST00000699601.1:c.*2400G>A	ENSP00000514470.1:n.*2400G>A
ENST00000699602.1:c.4019G>A	ENSP00000514471.1:p.Gly1340Glu
ENST00000699604.1:c.*3849G>A	ENSP00000514472.1:n.*3849G>A
ENST00000699605.1:c.3599G>A	ENSP00000514473.1:p.Gly1200Glu
ENST00000699606.1:n.2193G>A
ENST00000685018.1:c.889G>A	ENSP00000510194.1:n.889G>A
ENST00000687278.1:c.1812G>A	ENSP00000509593.1:n.1812G>A
ENST00000689011.1:c.607G>A
ENST00000003084.11:c.4025G>A MANE Select	ENSP00000003084.6:p.Gly1342Glu
ENST00000647720.1:c.1475G>A
ENST00000649781.1:c.3842G>A	ENSP00000497203.1:p.Gly1281Glu
ENST00000003084.10:c.4025G>A	ENSP00000003084.6:p.Gly1342Glu
ENST00000426809.5:c.3935G>A	ENSP00000389119.1:p.Gly1312Glu
ENST00000600166.1:c.151G>A
NM_000492.3:c.4025G>A , LRG_663t1:c.4025G>A	NP_000483.3:p.Gly1342Glu
XM_011515751.1:c.4115G>A	XP_011514053.1:p.Gly1372Glu
XM_011515752.1:c.4115G>A	XP_011514054.1:p.Gly1372Glu
XM_011515753.1:c.3782G>A	XP_011514055.1:p.Gly1261Glu
XM_011515754.1:c.3782G>A	XP_011514056.1:p.Gly1261Glu
NM_000492.4:c.4025G>A MANE Select	NP_000483.3:p.Gly1342Glu