Canonical Allele Identifier: CA2573141568

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1685623
• ClinVar RCV Id: RCV002249350
• dbSNP Id: rs2116129829

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627692dup , CM000669.2:g.117627692dup	GRCh38
NC_000007.13:g.117267746dup , CM000669.1:g.117267746dup	GRCh37
NC_000007.12:g.117054982dup	NCBI36
NG_016465.4:g.166909dup , LRG_663:g.166909dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+122dup	ENSP00000497673.2:n.3517+122dup
ENST00000647978.2:c.*3353dup	ENSP00000497658.1:n.*3353dup
ENST00000649781.2:c.3456dup	ENSP00000497203.1:p.Asp1153ArgfsTer?
ENST00000685018.2:c.3639dup	ENSP00000510194.2:p.Asp1214ArgfsTer?
ENST00000687278.2:c.*292dup	ENSP00000509593.2:n.*292dup
ENST00000699585.1:c.3517+122dup	ENSP00000514456.1:n.3517+122dup
ENST00000699598.1:c.3639dup	ENSP00000514467.1:p.Asp1214ArgfsTer?
ENST00000699599.1:c.3639dup	ENSP00000514468.1:p.Asp1214ArgfsTer?
ENST00000699600.1:c.*300dup	ENSP00000514469.1:n.*300dup
ENST00000699601.1:c.*2014dup	ENSP00000514470.1:n.*2014dup
ENST00000699602.1:c.3633dup	ENSP00000514471.1:p.Asp1212ArgfsTer?
ENST00000699604.1:c.*3463dup	ENSP00000514472.1:n.*3463dup
ENST00000699605.1:c.3213dup	ENSP00000514473.1:p.Asp1072ArgfsTer?
ENST00000685018.1:c.387dup	ENSP00000510194.1:p.Asp130ArgfsTer?
ENST00000687278.1:c.1426dup	ENSP00000509593.1:n.1426dup
ENST00000689011.1:c.221dup
ENST00000003084.11:c.3639dup MANE Select	ENSP00000003084.6:p.Asp1214ArgfsTer?
ENST00000647720.1:c.1167+122dup
ENST00000648260.1:c.2421dup	ENSP00000497957.1:p.Asp808ArgfsTer30
ENST00000649406.1:c.3456dup	ENSP00000497965.1:p.Asp1153ArgfsTer30
ENST00000649781.1:c.3456dup	ENSP00000497203.1:p.Asp1153ArgfsTer?
ENST00000003084.10:c.3639dup	ENSP00000003084.6:p.Asp1214ArgfsTer?
ENST00000426809.5:c.3549dup	ENSP00000389119.1:p.Asp1184ArgfsTer?
ENST00000468795.1:c.464dup
NM_000492.3:c.3639dup , LRG_663t1:c.3639dup	NP_000483.3:p.Asp1214ArgfsTer?
XM_011515751.1:c.3729dup	XP_011514053.1:p.Asp1244ArgfsTer?
XM_011515752.1:c.3729dup	XP_011514054.1:p.Asp1244ArgfsTer?
XM_011515753.1:c.3396dup	XP_011514055.1:p.Asp1133ArgfsTer?
XM_011515754.1:c.3396dup	XP_011514056.1:p.Asp1133ArgfsTer?
NM_000492.4:c.3639dup MANE Select	NP_000483.3:p.Asp1214ArgfsTer?