Canonical Allele Identifier: CA2580076498

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1780501
• ClinVar RCV Id: RCV002410094

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117591974del , CM000669.2:g.117591974del	GRCh38
NC_000007.13:g.117232028del , CM000669.1:g.117232028del	GRCh37
NC_000007.12:g.117019264del	NCBI36
NG_016465.4:g.131191del , LRG_663:g.131191del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1807del	ENSP00000497673.2:p.Val603SerfsTer8
ENST00000647978.2:c.*1521del	ENSP00000497658.1:n.*1521del
ENST00000649781.2:c.1624del	ENSP00000497203.1:p.Val542SerfsTer8
ENST00000685018.2:c.1807del	ENSP00000510194.2:p.Val603SerfsTer8
ENST00000687278.2:c.1807del	ENSP00000509593.2:p.Val603SerfsTer8
ENST00000699585.1:c.1807del	ENSP00000514456.1:p.Val603SerfsTer8
ENST00000699598.1:c.1807del	ENSP00000514467.1:p.Val603SerfsTer8
ENST00000699599.1:c.1807del	ENSP00000514468.1:p.Val603SerfsTer8
ENST00000699600.1:c.1807del	ENSP00000514469.1:p.Val603SerfsTer8
ENST00000699601.1:c.*107del	ENSP00000514470.1:n.*107del
ENST00000699602.1:c.1807del	ENSP00000514471.1:p.Val603SerfsTer8
ENST00000699604.1:c.*1631del	ENSP00000514472.1:n.*1631del
ENST00000699605.1:c.1381del	ENSP00000514473.1:p.Val461SerfsTer8
ENST00000003084.11:c.1807del MANE Select	ENSP00000003084.6:p.Val603SerfsTer8
ENST00000647978.1:c.*1521del	ENSP00000497658.1:n.*1521del
ENST00000648260.1:c.1402-10852del	ENSP00000497957.1:n.1402-10852del
ENST00000649406.1:c.1624del	ENSP00000497965.1:p.Val542SerfsTer8
ENST00000649781.1:c.1624del	ENSP00000497203.1:p.Val542SerfsTer8
ENST00000003084.10:c.1807del	ENSP00000003084.6:p.Val603SerfsTer8
ENST00000426809.5:c.1717del	ENSP00000389119.1:p.Val573SerfsTer8
NM_000492.3:c.1807del , LRG_663t1:c.1807del	NP_000483.3:p.Val603SerfsTer8
XM_011515751.1:c.1897del	XP_011514053.1:p.Val633SerfsTer8
XM_011515752.1:c.1897del	XP_011514054.1:p.Val633SerfsTer8
XM_011515753.1:c.1564del	XP_011514055.1:p.Val522SerfsTer8
XM_011515754.1:c.1564del	XP_011514056.1:p.Val522SerfsTer8
NM_000492.4:c.1807del MANE Select	NP_000483.3:p.Val603SerfsTer8