Canonical Allele Identifier: CA368986448

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1794840
• ClinVar RCV Id: RCV002428958
• MyVariant Identifiers: chr7:g.117243623A>G (hg19) ; chr7:g.117603569A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603569A>G , CM000669.2:g.117603569A>G	GRCh38
NC_000007.13:g.117243623A>G , CM000669.1:g.117243623A>G	GRCh37
NC_000007.12:g.117030859A>G	NCBI36
NG_016465.4:g.142786A>G , LRG_663:g.142786A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2695A>G	ENSP00000497673.2:p.Arg899Gly
ENST00000647978.2:c.*2409A>G	ENSP00000497658.1:n.*2409A>G
ENST00000649781.2:c.2512A>G	ENSP00000497203.1:p.Arg838Gly
ENST00000685018.2:c.2695A>G	ENSP00000510194.2:p.Arg899Gly
ENST00000687278.2:c.2695A>G	ENSP00000509593.2:p.Arg899Gly
ENST00000699585.1:c.2695A>G	ENSP00000514456.1:p.Arg899Gly
ENST00000699598.1:c.2695A>G	ENSP00000514467.1:p.Arg899Gly
ENST00000699599.1:c.2695A>G	ENSP00000514468.1:p.Arg899Gly
ENST00000699600.1:c.2695A>G	ENSP00000514469.1:p.Arg899Gly
ENST00000699601.1:c.*995A>G	ENSP00000514470.1:n.*995A>G
ENST00000699602.1:c.2695A>G	ENSP00000514471.1:p.Arg899Gly
ENST00000699604.1:c.*2519A>G	ENSP00000514472.1:n.*2519A>G
ENST00000699605.1:c.2269A>G	ENSP00000514473.1:p.Arg757Gly
ENST00000687278.1:c.286A>G	ENSP00000509593.1:p.Arg96Gly
ENST00000003084.11:c.2695A>G MANE Select	ENSP00000003084.6:p.Arg899Gly
ENST00000647720.1:c.345A>G
ENST00000648260.1:c.1477A>G	ENSP00000497957.1:p.Arg493Gly
ENST00000649406.1:c.2512A>G	ENSP00000497965.1:p.Arg838Gly
ENST00000649781.1:c.2512A>G	ENSP00000497203.1:p.Arg838Gly
ENST00000003084.10:c.2695A>G	ENSP00000003084.6:p.Arg899Gly
ENST00000426809.5:c.2605A>G	ENSP00000389119.1:p.Arg869Gly
NM_000492.3:c.2695A>G , LRG_663t1:c.2695A>G	NP_000483.3:p.Arg899Gly
XM_011515751.1:c.2785A>G	XP_011514053.1:p.Arg929Gly
XM_011515752.1:c.2785A>G	XP_011514054.1:p.Arg929Gly
XM_011515753.1:c.2452A>G	XP_011514055.1:p.Arg818Gly
XM_011515754.1:c.2452A>G	XP_011514056.1:p.Arg818Gly
NM_000492.4:c.2695A>G MANE Select	NP_000483.3:p.Arg899Gly