Canonical Allele Identifier: CA368975583

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2445758
• ClinVar RCV Id: RCV003155677 ; RCV003274354
• gnomAD v4: 7-117642582-G-A
• MyVariant Identifiers: chr7:g.117282636G>A (hg19) ; chr7:g.117642582G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642582G>A , CM000669.2:g.117642582G>A	GRCh38
NC_000007.13:g.117282636G>A , CM000669.1:g.117282636G>A	GRCh37
NC_000007.12:g.117069872G>A	NCBI36
NG_016465.4:g.181799G>A , LRG_663:g.181799G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*71G>A	ENSP00000497673.2:n.*71G>A
ENST00000647978.2:c.*3576G>A	ENSP00000497658.1:n.*3576G>A
ENST00000649781.2:c.3679G>A	ENSP00000497203.1:p.Val1227Met
ENST00000685018.2:c.3862G>A	ENSP00000510194.2:p.Val1288Met
ENST00000687278.2:c.*515G>A	ENSP00000509593.2:n.*515G>A
ENST00000699585.1:c.*71G>A	ENSP00000514456.1:n.*71G>A
ENST00000699598.1:c.3862G>A	ENSP00000514467.1:p.Val1288Met
ENST00000699599.1:c.3862G>A	ENSP00000514468.1:p.Val1288Met
ENST00000699600.1:c.*523G>A	ENSP00000514469.1:n.*523G>A
ENST00000699601.1:c.*2237G>A	ENSP00000514470.1:n.*2237G>A
ENST00000699602.1:c.3856G>A	ENSP00000514471.1:p.Val1286Met
ENST00000699604.1:c.*3686G>A	ENSP00000514472.1:n.*3686G>A
ENST00000699605.1:c.3436G>A	ENSP00000514473.1:p.Val1146Met
ENST00000685018.1:c.610G>A	ENSP00000510194.1:p.Val204Met
ENST00000687278.1:c.1649G>A	ENSP00000509593.1:n.1649G>A
ENST00000689011.1:c.444G>A
ENST00000003084.11:c.3862G>A MANE Select	ENSP00000003084.6:p.Val1288Met
ENST00000647720.1:c.1312G>A
ENST00000649781.1:c.3679G>A	ENSP00000497203.1:p.Val1227Met
ENST00000003084.10:c.3862G>A	ENSP00000003084.6:p.Val1288Met
ENST00000426809.5:c.3772G>A	ENSP00000389119.1:p.Val1258Met
NM_000492.3:c.3862G>A , LRG_663t1:c.3862G>A	NP_000483.3:p.Val1288Met
XM_011515751.1:c.3952G>A	XP_011514053.1:p.Val1318Met
XM_011515752.1:c.3952G>A	XP_011514054.1:p.Val1318Met
XM_011515753.1:c.3619G>A	XP_011514055.1:p.Val1207Met
XM_011515754.1:c.3619G>A	XP_011514056.1:p.Val1207Met
NM_000492.4:c.3862G>A MANE Select	NP_000483.3:p.Val1288Met