Canonical Allele Identifier: CA325556

Gene: CFTR

Linked Data

• ClinVar Variation Id: 7160
• ClinVar RCV Id: RCV000007580 ; RCV001004510 ; RCV001831540 ; RCV002496298 ; RCV003736536
• dbSNP Id: rs143570767
• gnomAD v4: 7-117642594-G-A
• MyVariant Identifiers: chr7:g.117282648G>A (hg19) ; chr7:g.117642594G>A (hg38)
• PubMed: PMID:1284639 ; PMID:23974870

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642594G>A , CM000669.2:g.117642594G>A	GRCh38
NC_000007.13:g.117282648G>A , CM000669.1:g.117282648G>A	GRCh37
NC_000007.12:g.117069884G>A	NCBI36
NG_016465.4:g.181811G>A , LRG_663:g.181811G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*82+1G>A	ENSP00000497673.2:n.*82+1G>A
ENST00000647978.2:c.*3587+1G>A	ENSP00000497658.1:n.*3587+1G>A
ENST00000649781.2:c.3690+1G>A	ENSP00000497203.1:n.3690+1G>A
ENST00000685018.2:c.3873+1G>A	ENSP00000510194.2:n.3873+1G>A
ENST00000687278.2:c.*526+1G>A	ENSP00000509593.2:n.*526+1G>A
ENST00000699585.1:c.*82+1G>A	ENSP00000514456.1:n.*82+1G>A
ENST00000699598.1:c.3873+1G>A	ENSP00000514467.1:n.3873+1G>A
ENST00000699599.1:c.3873+1G>A	ENSP00000514468.1:n.3873+1G>A
ENST00000699600.1:c.*534+1G>A	ENSP00000514469.1:n.*534+1G>A
ENST00000699601.1:c.*2248+1G>A	ENSP00000514470.1:n.*2248+1G>A
ENST00000699602.1:c.3867+1G>A	ENSP00000514471.1:n.3867+1G>A
ENST00000699604.1:c.*3697+1G>A	ENSP00000514472.1:n.*3697+1G>A
ENST00000699605.1:c.3447+1G>A	ENSP00000514473.1:n.3447+1G>A
ENST00000685018.1:c.621+1G>A	ENSP00000510194.1:n.621+1G>A
ENST00000687278.1:c.1660+1G>A	ENSP00000509593.1:n.1660+1G>A
ENST00000689011.1:c.455+1G>A
ENST00000003084.11:c.3873+1G>A MANE Select	ENSP00000003084.6:n.3873+1G>A
ENST00000647720.1:c.1323+1G>A
ENST00000649781.1:c.3690+1G>A	ENSP00000497203.1:n.3690+1G>A
ENST00000003084.10:c.3873+1G>A	ENSP00000003084.6:n.3873+1G>A
ENST00000426809.5:c.3783+1G>A	ENSP00000389119.1:n.3783+1G>A
NM_000492.3:c.3873+1G>A , LRG_663t1:c.3873+1G>A	NP_000483.3:n.3873+1G>A
XM_011515751.1:c.3963+1G>A	XP_011514053.1:n.3963+1G>A
XM_011515752.1:c.3963+1G>A	XP_011514054.1:n.3963+1G>A
XM_011515753.1:c.3630+1G>A	XP_011514055.1:n.3630+1G>A
XM_011515754.1:c.3630+1G>A	XP_011514056.1:n.3630+1G>A
NM_000492.4:c.3873+1G>A MANE Select	NP_000483.3:n.3873+1G>A