Canonical Allele Identifier: CA327389

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53880
• ClinVar RCV Id: RCV000295222 ; RCV000780113 ; RCV001272366
• dbSNP Id: rs201686600
• ExAC: 7:117304823 G / A
• gnomAD v2: 7-117304823-G-A
• gnomAD v3: 7-117664769-G-A
• gnomAD v4: 7-117664769-G-A
• MyVariant Identifiers: chr7:g.117304823G>A (hg19) ; chr7:g.117664769G>A (hg38)
• PubMed: PMID:15463840

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664769G>A , CM000669.2:g.117664769G>A	GRCh38
NC_000007.13:g.117304823G>A , CM000669.1:g.117304823G>A	GRCh37
NC_000007.12:g.117092059G>A	NCBI36
NG_016465.4:g.203986G>A , LRG_663:g.203986G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*254G>A	ENSP00000497673.2:n.*254G>A
ENST00000647978.2:c.*3759G>A	ENSP00000497658.1:n.*3759G>A
ENST00000649781.2:c.3862G>A	ENSP00000497203.1:p.Gly1288Ser
ENST00000685018.2:c.*258G>A	ENSP00000510194.2:n.*258G>A
ENST00000687278.2:c.*698G>A	ENSP00000509593.2:n.*698G>A
ENST00000699585.1:c.*254G>A	ENSP00000514456.1:n.*254G>A
ENST00000699598.1:c.4045G>A	ENSP00000514467.1:p.Gly1349Ser
ENST00000699599.1:c.*258G>A	ENSP00000514468.1:n.*258G>A
ENST00000699600.1:c.*706G>A	ENSP00000514469.1:n.*706G>A
ENST00000699601.1:c.*2420G>A	ENSP00000514470.1:n.*2420G>A
ENST00000699602.1:c.4039G>A	ENSP00000514471.1:p.Gly1347Ser
ENST00000699604.1:c.*3869G>A	ENSP00000514472.1:n.*3869G>A
ENST00000699605.1:c.3619G>A	ENSP00000514473.1:p.Gly1207Ser
ENST00000699606.1:n.2213G>A
ENST00000685018.1:c.909G>A	ENSP00000510194.1:n.909G>A
ENST00000687278.1:c.1832G>A	ENSP00000509593.1:n.1832G>A
ENST00000689011.1:c.627G>A
ENST00000003084.11:c.4045G>A MANE Select	ENSP00000003084.6:p.Gly1349Ser
ENST00000647720.1:c.1495G>A
ENST00000649781.1:c.3862G>A	ENSP00000497203.1:p.Gly1288Ser
ENST00000003084.10:c.4045G>A	ENSP00000003084.6:p.Gly1349Ser
ENST00000426809.5:c.3955G>A	ENSP00000389119.1:p.Gly1319Ser
ENST00000600166.1:c.171G>A
NM_000492.3:c.4045G>A , LRG_663t1:c.4045G>A	NP_000483.3:p.Gly1349Ser
XM_011515751.1:c.4135G>A	XP_011514053.1:p.Gly1379Ser
XM_011515752.1:c.4135G>A	XP_011514054.1:p.Gly1379Ser
XM_011515753.1:c.3802G>A	XP_011514055.1:p.Gly1268Ser
XM_011515754.1:c.3802G>A	XP_011514056.1:p.Gly1268Ser
NM_000492.4:c.4045G>A MANE Select	NP_000483.3:p.Gly1349Ser