Canonical Allele Identifier: CA325568

Gene: CFTR

Linked Data

• ClinVar Variation Id: 7177
• ClinVar RCV Id: RCV000007597 ; RCV001831544 ; RCV003996079
• dbSNP Id: rs387906369
• COSMIC: COSM3632324
• MyVariant Identifiers: chr7:g.117282491G>A (hg19) ; chr7:g.117642437G>A (hg38)
• PubMed: PMID:15024729 ; PMID:23974870

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642437G>A , CM000669.2:g.117642437G>A	GRCh38
NC_000007.13:g.117282491G>A , CM000669.1:g.117282491G>A	GRCh37
NC_000007.12:g.117069727G>A	NCBI36
NG_016465.4:g.181654G>A , LRG_663:g.181654G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3518-1G>A	ENSP00000497673.2:n.3518-1G>A
ENST00000647978.2:c.*3432-1G>A	ENSP00000497658.1:n.*3432-1G>A
ENST00000649781.2:c.3535-1G>A	ENSP00000497203.1:n.3535-1G>A
ENST00000685018.2:c.3718-1G>A	ENSP00000510194.2:n.3718-1G>A
ENST00000687278.2:c.*371-1G>A	ENSP00000509593.2:n.*371-1G>A
ENST00000699585.1:c.3518-1G>A	ENSP00000514456.1:n.3518-1G>A
ENST00000699598.1:c.3718-1G>A	ENSP00000514467.1:n.3718-1G>A
ENST00000699599.1:c.3718-1G>A	ENSP00000514468.1:n.3718-1G>A
ENST00000699600.1:c.*379-1G>A	ENSP00000514469.1:n.*379-1G>A
ENST00000699601.1:c.*2093-1G>A	ENSP00000514470.1:n.*2093-1G>A
ENST00000699602.1:c.3712-1G>A	ENSP00000514471.1:n.3712-1G>A
ENST00000699604.1:c.*3542-1G>A	ENSP00000514472.1:n.*3542-1G>A
ENST00000699605.1:c.3292-1G>A	ENSP00000514473.1:n.3292-1G>A
ENST00000685018.1:c.466-1G>A	ENSP00000510194.1:n.466-1G>A
ENST00000687278.1:c.1505-1G>A	ENSP00000509593.1:n.1505-1G>A
ENST00000689011.1:c.300-1G>A
ENST00000003084.11:c.3718-1G>A MANE Select	ENSP00000003084.6:n.3718-1G>A
ENST00000647720.1:c.1168-1G>A
ENST00000649781.1:c.3535-1G>A	ENSP00000497203.1:n.3535-1G>A
ENST00000003084.10:c.3718-1G>A	ENSP00000003084.6:n.3718-1G>A
ENST00000426809.5:c.3628-1G>A	ENSP00000389119.1:n.3628-1G>A
NM_000492.3:c.3718-1G>A , LRG_663t1:c.3718-1G>A	NP_000483.3:n.3718-1G>A
XM_011515751.1:c.3808-1G>A	XP_011514053.1:n.3808-1G>A
XM_011515752.1:c.3808-1G>A	XP_011514054.1:n.3808-1G>A
XM_011515753.1:c.3475-1G>A	XP_011514055.1:n.3475-1G>A
XM_011515754.1:c.3475-1G>A	XP_011514056.1:n.3475-1G>A
NM_000492.4:c.3718-1G>A MANE Select	NP_000483.3:n.3718-1G>A