Canonical Allele Identifier: CA327365

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53863
• ClinVar RCV Id: RCV000577518
• dbSNP Id: rs397508651
• ExAC: 7:117304714 G / A
• gnomAD v2: 7-117304714-G-A
• gnomAD v3: 7-117664660-G-A
• gnomAD v4: 7-117664660-G-A
• MyVariant Identifiers: chr7:g.117304714G>A (hg19) ; chr7:g.117664660G>A (hg38)
• PubMed: PMID:9254864

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664660G>A , CM000669.2:g.117664660G>A	GRCh38
NC_000007.13:g.117304714G>A , CM000669.1:g.117304714G>A	GRCh37
NC_000007.12:g.117091950G>A	NCBI36
NG_016465.4:g.203877G>A , LRG_663:g.203877G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*173-28G>A	ENSP00000497673.2:n.*173-28G>A
ENST00000647978.2:c.*3678-28G>A	ENSP00000497658.1:n.*3678-28G>A
ENST00000649781.2:c.3781-28G>A	ENSP00000497203.1:n.3781-28G>A
ENST00000685018.2:c.*177-28G>A	ENSP00000510194.2:n.*177-28G>A
ENST00000687278.2:c.*617-28G>A	ENSP00000509593.2:n.*617-28G>A
ENST00000699585.1:c.*173-28G>A	ENSP00000514456.1:n.*173-28G>A
ENST00000699598.1:c.3964-28G>A	ENSP00000514467.1:n.3964-28G>A
ENST00000699599.1:c.*177-28G>A	ENSP00000514468.1:n.*177-28G>A
ENST00000699600.1:c.*625-28G>A	ENSP00000514469.1:n.*625-28G>A
ENST00000699601.1:c.*2339-28G>A	ENSP00000514470.1:n.*2339-28G>A
ENST00000699602.1:c.3958-28G>A	ENSP00000514471.1:n.3958-28G>A
ENST00000699604.1:c.*3788-28G>A	ENSP00000514472.1:n.*3788-28G>A
ENST00000699605.1:c.3538-28G>A	ENSP00000514473.1:n.3538-28G>A
ENST00000699606.1:n.2132-28G>A
ENST00000685018.1:c.828-28G>A	ENSP00000510194.1:n.828-28G>A
ENST00000687278.1:c.1751-28G>A	ENSP00000509593.1:n.1751-28G>A
ENST00000689011.1:c.546-28G>A
ENST00000003084.11:c.3964-28G>A MANE Select	ENSP00000003084.6:n.3964-28G>A
ENST00000647720.1:c.1414-28G>A
ENST00000649781.1:c.3781-28G>A	ENSP00000497203.1:n.3781-28G>A
ENST00000003084.10:c.3964-28G>A	ENSP00000003084.6:n.3964-28G>A
ENST00000426809.5:c.3874-28G>A	ENSP00000389119.1:n.3874-28G>A
ENST00000600166.1:c.90-28G>A
NM_000492.3:c.3964-28G>A , LRG_663t1:c.3964-28G>A	NP_000483.3:n.3964-28G>A
XM_011515751.1:c.4054-28G>A	XP_011514053.1:n.4054-28G>A
XM_011515752.1:c.4054-28G>A	XP_011514054.1:n.4054-28G>A
XM_011515753.1:c.3721-28G>A	XP_011514055.1:n.3721-28G>A
XM_011515754.1:c.3721-28G>A	XP_011514056.1:n.3721-28G>A
NM_000492.4:c.3964-28G>A MANE Select	NP_000483.3:n.3964-28G>A