Canonical Allele Identifier: CA368986408

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2453630
• ClinVar RCV Id: RCV003187765
• dbSNP Id: rs1584817676
• COSMIC: COSM1699244
• MyVariant Identifiers: chr7:g.117243605G>A (hg19) ; chr7:g.117603551G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603551G>A , CM000669.2:g.117603551G>A	GRCh38
NC_000007.13:g.117243605G>A , CM000669.1:g.117243605G>A	GRCh37
NC_000007.12:g.117030841G>A	NCBI36
NG_016465.4:g.142768G>A , LRG_663:g.142768G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2677G>A	ENSP00000497673.2:p.Gly893Arg
ENST00000647978.2:c.*2391G>A	ENSP00000497658.1:n.*2391G>A
ENST00000649781.2:c.2494G>A	ENSP00000497203.1:p.Gly832Arg
ENST00000685018.2:c.2677G>A	ENSP00000510194.2:p.Gly893Arg
ENST00000687278.2:c.2677G>A	ENSP00000509593.2:p.Gly893Arg
ENST00000699585.1:c.2677G>A	ENSP00000514456.1:p.Gly893Arg
ENST00000699598.1:c.2677G>A	ENSP00000514467.1:p.Gly893Arg
ENST00000699599.1:c.2677G>A	ENSP00000514468.1:p.Gly893Arg
ENST00000699600.1:c.2677G>A	ENSP00000514469.1:p.Gly893Arg
ENST00000699601.1:c.*977G>A	ENSP00000514470.1:n.*977G>A
ENST00000699602.1:c.2677G>A	ENSP00000514471.1:p.Gly893Arg
ENST00000699604.1:c.*2501G>A	ENSP00000514472.1:n.*2501G>A
ENST00000699605.1:c.2251G>A	ENSP00000514473.1:p.Gly751Arg
ENST00000687278.1:c.268G>A	ENSP00000509593.1:p.Gly90Arg
ENST00000003084.11:c.2677G>A MANE Select	ENSP00000003084.6:p.Gly893Arg
ENST00000647720.1:c.327G>A
ENST00000648260.1:c.1459G>A	ENSP00000497957.1:p.Gly487Arg
ENST00000649406.1:c.2494G>A	ENSP00000497965.1:p.Gly832Arg
ENST00000649781.1:c.2494G>A	ENSP00000497203.1:p.Gly832Arg
ENST00000003084.10:c.2677G>A	ENSP00000003084.6:p.Gly893Arg
ENST00000426809.5:c.2587G>A	ENSP00000389119.1:p.Gly863Arg
NM_000492.3:c.2677G>A , LRG_663t1:c.2677G>A	NP_000483.3:p.Gly893Arg
XM_011515751.1:c.2767G>A	XP_011514053.1:p.Gly923Arg
XM_011515752.1:c.2767G>A	XP_011514054.1:p.Gly923Arg
XM_011515753.1:c.2434G>A	XP_011514055.1:p.Gly812Arg
XM_011515754.1:c.2434G>A	XP_011514056.1:p.Gly812Arg
NM_000492.4:c.2677G>A MANE Select	NP_000483.3:p.Gly893Arg