Canonical Allele Identifier: CA368986064

Gene: CFTR

Linked Data

• ClinVar Variation Id: 983583
• ClinVar RCV Id: RCV001263582
• dbSNP Id: rs1792246412
• MyVariant Identifiers: chr7:g.117242906G>A (hg19) ; chr7:g.117602852G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117602852G>A , CM000669.2:g.117602852G>A	GRCh38
NC_000007.13:g.117242906G>A , CM000669.1:g.117242906G>A	GRCh37
NC_000007.12:g.117030142G>A	NCBI36
NG_016465.4:g.142069G>A , LRG_663:g.142069G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2646G>A	ENSP00000497673.2:p.Trp882Ter
ENST00000647978.2:c.*2360G>A	ENSP00000497658.1:n.*2360G>A
ENST00000649781.2:c.2463G>A	ENSP00000497203.1:p.Trp821Ter
ENST00000685018.2:c.2646G>A	ENSP00000510194.2:p.Trp882Ter
ENST00000687278.2:c.2646G>A	ENSP00000509593.2:p.Trp882Ter
ENST00000699585.1:c.2646G>A	ENSP00000514456.1:p.Trp882Ter
ENST00000699598.1:c.2646G>A	ENSP00000514467.1:p.Trp882Ter
ENST00000699599.1:c.2646G>A	ENSP00000514468.1:p.Trp882Ter
ENST00000699600.1:c.2646G>A	ENSP00000514469.1:p.Trp882Ter
ENST00000699601.1:c.*946G>A	ENSP00000514470.1:n.*946G>A
ENST00000699602.1:c.2646G>A	ENSP00000514471.1:p.Trp882Ter
ENST00000699604.1:c.*2470G>A	ENSP00000514472.1:n.*2470G>A
ENST00000699605.1:c.2220G>A	ENSP00000514473.1:p.Trp740Ter
ENST00000687278.1:c.237G>A	ENSP00000509593.1:p.Trp79Ter
ENST00000003084.11:c.2646G>A MANE Select	ENSP00000003084.6:p.Trp882Ter
ENST00000647720.1:c.296G>A
ENST00000648260.1:c.1428G>A	ENSP00000497957.1:p.Trp476Ter
ENST00000649406.1:c.2463G>A	ENSP00000497965.1:p.Trp821Ter
ENST00000649781.1:c.2463G>A	ENSP00000497203.1:p.Trp821Ter
ENST00000003084.10:c.2646G>A	ENSP00000003084.6:p.Trp882Ter
ENST00000426809.5:c.2556G>A	ENSP00000389119.1:p.Trp852Ter
NM_000492.3:c.2646G>A , LRG_663t1:c.2646G>A	NP_000483.3:p.Trp882Ter
XM_011515751.1:c.2736G>A	XP_011514053.1:p.Trp912Ter
XM_011515752.1:c.2736G>A	XP_011514054.1:p.Trp912Ter
XM_011515753.1:c.2403G>A	XP_011514055.1:p.Trp801Ter
XM_011515754.1:c.2403G>A	XP_011514056.1:p.Trp801Ter
NM_000492.4:c.2646G>A MANE Select	NP_000483.3:p.Trp882Ter