Canonical Allele Identifier: CA4451680

Gene: CFTR

Linked Data

• ClinVar Variation Id: 993611
• ClinVar RCV Id: RCV001812384 ; RCV001830083 ; RCV003770440
• dbSNP Id: rs780785939
• ExAC: 7:117306984 G / A
• gnomAD v2: 7-117306984-G-A
• gnomAD v4: 7-117666930-G-A
• MyVariant Identifiers: chr7:g.117306984G>A (hg19) ; chr7:g.117666930G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666930G>A , CM000669.2:g.117666930G>A	GRCh38
NC_000007.13:g.117306984G>A , CM000669.1:g.117306984G>A	GRCh37
NC_000007.12:g.117094220G>A	NCBI36
NG_016465.4:g.206147G>A , LRG_663:g.206147G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*474G>A	ENSP00000497673.2:n.*474G>A
ENST00000647978.2:c.*3979G>A	ENSP00000497658.1:n.*3979G>A
ENST00000649781.2:c.4082G>A	ENSP00000497203.1:p.Arg1361Gln
ENST00000685018.2:c.*478G>A	ENSP00000510194.2:n.*478G>A
ENST00000687278.2:c.*896-672G>A	ENSP00000509593.2:n.*896-672G>A
ENST00000699585.1:c.*734G>A	ENSP00000514456.1:n.*734G>A
ENST00000699598.1:c.4258G>A	ENSP00000514467.1:p.Gly1420Ser
ENST00000699599.1:c.*478G>A	ENSP00000514468.1:n.*478G>A
ENST00000699600.1:c.*904-672G>A	ENSP00000514469.1:n.*904-672G>A
ENST00000699601.1:c.*2640G>A	ENSP00000514470.1:n.*2640G>A
ENST00000699602.1:c.4259G>A	ENSP00000514471.1:p.Arg1420Gln
ENST00000699604.1:c.*4089G>A	ENSP00000514472.1:n.*4089G>A
ENST00000699605.1:c.3839G>A	ENSP00000514473.1:p.Arg1280Gln
ENST00000699606.1:n.3776G>A
ENST00000685018.1:c.1129G>A	ENSP00000510194.1:n.1129G>A
ENST00000687278.1:c.2030-672G>A	ENSP00000509593.1:n.2030-672G>A
ENST00000689011.1:c.1107G>A
ENST00000003084.11:c.4265G>A MANE Select	ENSP00000003084.6:p.Arg1422Gln
ENST00000647720.1:c.1715G>A
ENST00000649781.1:c.4082G>A	ENSP00000497203.1:p.Arg1361Gln
ENST00000003084.10:c.4265G>A	ENSP00000003084.6:p.Arg1422Gln
ENST00000426809.5:c.4175G>A	ENSP00000389119.1:p.Arg1392Gln
ENST00000600166.1:c.368+1366G>A
NM_000492.3:c.4265G>A , LRG_663t1:c.4265G>A	NP_000483.3:p.Arg1422Gln
XM_011515751.1:c.4355G>A	XP_011514053.1:p.Arg1452Gln
XM_011515753.1:c.4022G>A	XP_011514055.1:p.Arg1341Gln
XM_011515754.1:c.4022G>A	XP_011514056.1:p.Arg1341Gln
NM_000492.4:c.4265G>A MANE Select	NP_000483.3:p.Arg1422Gln