Canonical Allele Identifier: CA327453

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53921
• ClinVar RCV Id: RCV000577394 ; RCV001831790
• dbSNP Id: rs397508697
• gnomAD v4: 7-117665524-A-G
• MyVariant Identifiers: chr7:g.117305578A>G (hg19) ; chr7:g.117665524A>G (hg38)
• PubMed: PMID:20059485

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665524A>G , CM000669.2:g.117665524A>G	GRCh38
NC_000007.13:g.117305578A>G , CM000669.1:g.117305578A>G	GRCh37
NC_000007.12:g.117092814A>G	NCBI36
NG_016465.4:g.204741A>G , LRG_663:g.204741A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*411A>G	ENSP00000497673.2:n.*411A>G
ENST00000647978.2:c.*3916A>G	ENSP00000497658.1:n.*3916A>G
ENST00000649781.2:c.4019A>G	ENSP00000497203.1:p.Glu1340Gly
ENST00000685018.2:c.*415A>G	ENSP00000510194.2:n.*415A>G
ENST00000687278.2:c.*855A>G	ENSP00000509593.2:n.*855A>G
ENST00000699585.1:c.*411A>G	ENSP00000514456.1:n.*411A>G
ENST00000699598.1:c.4202A>G	ENSP00000514467.1:p.Glu1401Gly
ENST00000699599.1:c.*415A>G	ENSP00000514468.1:n.*415A>G
ENST00000699600.1:c.*863A>G	ENSP00000514469.1:n.*863A>G
ENST00000699601.1:c.*2577A>G	ENSP00000514470.1:n.*2577A>G
ENST00000699602.1:c.4196A>G	ENSP00000514471.1:p.Glu1399Gly
ENST00000699604.1:c.*4026A>G	ENSP00000514472.1:n.*4026A>G
ENST00000699605.1:c.3776A>G	ENSP00000514473.1:p.Glu1259Gly
ENST00000699606.1:n.2370A>G
ENST00000685018.1:c.1066A>G	ENSP00000510194.1:n.1066A>G
ENST00000687278.1:c.1989A>G	ENSP00000509593.1:n.1989A>G
ENST00000689011.1:c.784A>G
ENST00000003084.11:c.4202A>G MANE Select	ENSP00000003084.6:p.Glu1401Gly
ENST00000647720.1:c.1652A>G
ENST00000649781.1:c.4019A>G	ENSP00000497203.1:p.Glu1340Gly
ENST00000003084.10:c.4202A>G	ENSP00000003084.6:p.Glu1401Gly
ENST00000426809.5:c.4112A>G	ENSP00000389119.1:p.Glu1371Gly
ENST00000600166.1:c.328A>G
NM_000492.3:c.4202A>G , LRG_663t1:c.4202A>G	NP_000483.3:p.Glu1401Gly
XM_011515751.1:c.4292A>G	XP_011514053.1:p.Glu1431Gly
XM_011515752.1:c.4292A>G	XP_011514054.1:p.Glu1431Gly
XM_011515753.1:c.3959A>G	XP_011514055.1:p.Glu1320Gly
XM_011515754.1:c.3959A>G	XP_011514056.1:p.Glu1320Gly
NM_000492.4:c.4202A>G MANE Select	NP_000483.3:p.Glu1401Gly