Canonical Allele Identifier: CA242296

Gene: CFTR

Linked Data

• ClinVar Variation Id: 195731
• ClinVar RCV Id: RCV000176370 ; RCV001400091
• dbSNP Id: rs794727373
• gnomAD v2: 7-117282521-G-A
• gnomAD v3: 7-117642467-G-A
• gnomAD v4: 7-117642467-G-A
• COSMIC: COSM5542742
• MyVariant Identifiers: chr7:g.117282521G>A (hg19) ; chr7:g.117642467G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642467G>A , CM000669.2:g.117642467G>A	GRCh38
NC_000007.13:g.117282521G>A , CM000669.1:g.117282521G>A	GRCh37
NC_000007.12:g.117069757G>A	NCBI36
NG_016465.4:g.181684G>A , LRG_663:g.181684G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3547G>A	ENSP00000497673.2:p.Glu1183Lys
ENST00000647978.2:c.*3461G>A	ENSP00000497658.1:n.*3461G>A
ENST00000649781.2:c.3564G>A	ENSP00000497203.1:p.Gly1188=
ENST00000685018.2:c.3747G>A	ENSP00000510194.2:p.Gly1249=
ENST00000687278.2:c.*400G>A	ENSP00000509593.2:n.*400G>A
ENST00000699585.1:c.3547G>A	ENSP00000514456.1:p.Glu1183Lys
ENST00000699598.1:c.3747G>A	ENSP00000514467.1:p.Gly1249=
ENST00000699599.1:c.3747G>A	ENSP00000514468.1:p.Gly1249=
ENST00000699600.1:c.*408G>A	ENSP00000514469.1:n.*408G>A
ENST00000699601.1:c.*2122G>A	ENSP00000514470.1:n.*2122G>A
ENST00000699602.1:c.3741G>A	ENSP00000514471.1:p.Gly1247=
ENST00000699604.1:c.*3571G>A	ENSP00000514472.1:n.*3571G>A
ENST00000699605.1:c.3321G>A	ENSP00000514473.1:p.Gly1107=
ENST00000685018.1:c.495G>A	ENSP00000510194.1:p.Gly165=
ENST00000687278.1:c.1534G>A	ENSP00000509593.1:n.1534G>A
ENST00000689011.1:c.329G>A
ENST00000003084.11:c.3747G>A MANE Select	ENSP00000003084.6:p.Gly1249=
ENST00000647720.1:c.1197G>A
ENST00000649781.1:c.3564G>A	ENSP00000497203.1:p.Gly1188=
ENST00000003084.10:c.3747G>A	ENSP00000003084.6:p.Gly1249=
ENST00000426809.5:c.3657G>A	ENSP00000389119.1:p.Gly1219=
NM_000492.3:c.3747G>A , LRG_663t1:c.3747G>A	NP_000483.3:p.Gly1249=
XM_011515751.1:c.3837G>A	XP_011514053.1:p.Gly1279=
XM_011515752.1:c.3837G>A	XP_011514054.1:p.Gly1279=
XM_011515753.1:c.3504G>A	XP_011514055.1:p.Gly1168=
XM_011515754.1:c.3504G>A	XP_011514056.1:p.Gly1168=
NM_000492.4:c.3747G>A MANE Select	NP_000483.3:p.Gly1249=