Canonical Allele Identifier: CA242298

Gene: CFTR

Linked Data

• ClinVar Variation Id: 195732
• ClinVar RCV Id: RCV000589147 ; RCV001320588 ; RCV001826892
• dbSNP Id: rs752834717
• gnomAD v2: 7-117282589-T-A
• gnomAD v3: 7-117642535-T-A
• gnomAD v4: 7-117642535-T-A
• MyVariant Identifiers: chr7:g.117282589T>A (hg19) ; chr7:g.117642535T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642535T>A , CM000669.2:g.117642535T>A	GRCh38
NC_000007.13:g.117282589T>A , CM000669.1:g.117282589T>A	GRCh37
NC_000007.12:g.117069825T>A	NCBI36
NG_016465.4:g.181752T>A , LRG_663:g.181752T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*24T>A	ENSP00000497673.2:n.*24T>A
ENST00000647978.2:c.*3529T>A	ENSP00000497658.1:n.*3529T>A
ENST00000649781.2:c.3632T>A	ENSP00000497203.1:p.Val1211Glu
ENST00000685018.2:c.3815T>A	ENSP00000510194.2:p.Val1272Glu
ENST00000687278.2:c.*468T>A	ENSP00000509593.2:n.*468T>A
ENST00000699585.1:c.*24T>A	ENSP00000514456.1:n.*24T>A
ENST00000699598.1:c.3815T>A	ENSP00000514467.1:p.Val1272Glu
ENST00000699599.1:c.3815T>A	ENSP00000514468.1:p.Val1272Glu
ENST00000699600.1:c.*476T>A	ENSP00000514469.1:n.*476T>A
ENST00000699601.1:c.*2190T>A	ENSP00000514470.1:n.*2190T>A
ENST00000699602.1:c.3809T>A	ENSP00000514471.1:p.Val1270Glu
ENST00000699604.1:c.*3639T>A	ENSP00000514472.1:n.*3639T>A
ENST00000699605.1:c.3389T>A	ENSP00000514473.1:p.Val1130Glu
ENST00000685018.1:c.563T>A	ENSP00000510194.1:p.Val188Glu
ENST00000687278.1:c.1602T>A	ENSP00000509593.1:n.1602T>A
ENST00000689011.1:c.397T>A
ENST00000003084.11:c.3815T>A MANE Select	ENSP00000003084.6:p.Val1272Glu
ENST00000647720.1:c.1265T>A
ENST00000649781.1:c.3632T>A	ENSP00000497203.1:p.Val1211Glu
ENST00000003084.10:c.3815T>A	ENSP00000003084.6:p.Val1272Glu
ENST00000426809.5:c.3725T>A	ENSP00000389119.1:p.Val1242Glu
NM_000492.3:c.3815T>A , LRG_663t1:c.3815T>A	NP_000483.3:p.Val1272Glu
XM_011515751.1:c.3905T>A	XP_011514053.1:p.Val1302Glu
XM_011515752.1:c.3905T>A	XP_011514054.1:p.Val1302Glu
XM_011515753.1:c.3572T>A	XP_011514055.1:p.Val1191Glu
XM_011515754.1:c.3572T>A	XP_011514056.1:p.Val1191Glu
NM_000492.4:c.3815T>A MANE Select	NP_000483.3:p.Val1272Glu