Canonical Allele Identifier: CA368974992

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1734991
• ClinVar RCV Id: RCV002355142 ; RCV003324022
• dbSNP Id: rs1792933855
• MyVariant Identifiers: chr7:g.117282571A>G (hg19) ; chr7:g.117642517A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642517A>G , CM000669.2:g.117642517A>G	GRCh38
NC_000007.13:g.117282571A>G , CM000669.1:g.117282571A>G	GRCh37
NC_000007.12:g.117069807A>G	NCBI36
NG_016465.4:g.181734A>G , LRG_663:g.181734A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*6A>G	ENSP00000497673.2:n.*6A>G
ENST00000647978.2:c.*3511A>G	ENSP00000497658.1:n.*3511A>G
ENST00000649781.2:c.3614A>G	ENSP00000497203.1:p.Glu1205Gly
ENST00000685018.2:c.3797A>G	ENSP00000510194.2:p.Glu1266Gly
ENST00000687278.2:c.*450A>G	ENSP00000509593.2:n.*450A>G
ENST00000699585.1:c.*6A>G	ENSP00000514456.1:n.*6A>G
ENST00000699598.1:c.3797A>G	ENSP00000514467.1:p.Glu1266Gly
ENST00000699599.1:c.3797A>G	ENSP00000514468.1:p.Glu1266Gly
ENST00000699600.1:c.*458A>G	ENSP00000514469.1:n.*458A>G
ENST00000699601.1:c.*2172A>G	ENSP00000514470.1:n.*2172A>G
ENST00000699602.1:c.3791A>G	ENSP00000514471.1:p.Glu1264Gly
ENST00000699604.1:c.*3621A>G	ENSP00000514472.1:n.*3621A>G
ENST00000699605.1:c.3371A>G	ENSP00000514473.1:p.Glu1124Gly
ENST00000685018.1:c.545A>G	ENSP00000510194.1:p.Glu182Gly
ENST00000687278.1:c.1584A>G	ENSP00000509593.1:n.1584A>G
ENST00000689011.1:c.379A>G
ENST00000003084.11:c.3797A>G MANE Select	ENSP00000003084.6:p.Glu1266Gly
ENST00000647720.1:c.1247A>G
ENST00000649781.1:c.3614A>G	ENSP00000497203.1:p.Glu1205Gly
ENST00000003084.10:c.3797A>G	ENSP00000003084.6:p.Glu1266Gly
ENST00000426809.5:c.3707A>G	ENSP00000389119.1:p.Glu1236Gly
NM_000492.3:c.3797A>G , LRG_663t1:c.3797A>G	NP_000483.3:p.Glu1266Gly
XM_011515751.1:c.3887A>G	XP_011514053.1:p.Glu1296Gly
XM_011515752.1:c.3887A>G	XP_011514054.1:p.Glu1296Gly
XM_011515753.1:c.3554A>G	XP_011514055.1:p.Glu1185Gly
XM_011515754.1:c.3554A>G	XP_011514056.1:p.Glu1185Gly
NM_000492.4:c.3797A>G MANE Select	NP_000483.3:p.Glu1266Gly