Canonical Allele Identifier: CA457449395

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1787123
• ClinVar RCV Id: RCV002432756
• dbSNP Id: rs368599862
• MyVariant Identifiers: chr7:g.117232393C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592339C>A , CM000669.2:g.117592339C>A	GRCh38
NC_000007.13:g.117232393C>A , CM000669.1:g.117232393C>A	GRCh37
NC_000007.12:g.117019629C>A	NCBI36
NG_016465.4:g.131556C>A , LRG_663:g.131556C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2172C>A	ENSP00000497673.2:p.Ile724=
ENST00000647978.2:c.*1886C>A	ENSP00000497658.1:n.*1886C>A
ENST00000649781.2:c.1989C>A	ENSP00000497203.1:p.Ile663=
ENST00000685018.2:c.2172C>A	ENSP00000510194.2:p.Ile724=
ENST00000687278.2:c.2172C>A	ENSP00000509593.2:p.Ile724=
ENST00000699585.1:c.2172C>A	ENSP00000514456.1:p.Ile724=
ENST00000699598.1:c.2172C>A	ENSP00000514467.1:p.Ile724=
ENST00000699599.1:c.2172C>A	ENSP00000514468.1:p.Ile724=
ENST00000699600.1:c.2172C>A	ENSP00000514469.1:p.Ile724=
ENST00000699601.1:c.*472C>A	ENSP00000514470.1:n.*472C>A
ENST00000699602.1:c.2172C>A	ENSP00000514471.1:p.Ile724=
ENST00000699604.1:c.*1996C>A	ENSP00000514472.1:n.*1996C>A
ENST00000699605.1:c.1746C>A	ENSP00000514473.1:p.Ile582=
ENST00000003084.11:c.2172C>A MANE Select	ENSP00000003084.6:p.Ile724=
ENST00000647978.1:c.*1886C>A	ENSP00000497658.1:n.*1886C>A
ENST00000648260.1:c.1402-10487C>A	ENSP00000497957.1:n.1402-10487C>A
ENST00000649406.1:c.1989C>A	ENSP00000497965.1:p.Ile663=
ENST00000649781.1:c.1989C>A	ENSP00000497203.1:p.Ile663=
ENST00000003084.10:c.2172C>A	ENSP00000003084.6:p.Ile724=
ENST00000426809.5:c.2082C>A	ENSP00000389119.1:p.Ile694=
NM_000492.3:c.2172C>A , LRG_663t1:c.2172C>A	NP_000483.3:p.Ile724=
XM_011515751.1:c.2262C>A	XP_011514053.1:p.Ile754=
XM_011515752.1:c.2262C>A	XP_011514054.1:p.Ile754=
XM_011515753.1:c.1929C>A	XP_011514055.1:p.Ile643=
XM_011515754.1:c.1929C>A	XP_011514056.1:p.Ile643=
NM_000492.4:c.2172C>A MANE Select	NP_000483.3:p.Ile724=