Canonical Allele Identifier: CA2580076503

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2024285
• ClinVar RCV Id: RCV002863204

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592034dup , CM000669.2:g.117592034dup	GRCh38
NC_000007.13:g.117232088dup , CM000669.1:g.117232088dup	GRCh37
NC_000007.12:g.117019324dup	NCBI36
NG_016465.4:g.131251dup , LRG_663:g.131251dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1867dup	ENSP00000497673.2:p.Ser623LysfsTer19
ENST00000647978.2:c.*1581dup	ENSP00000497658.1:n.*1581dup
ENST00000649781.2:c.1684dup	ENSP00000497203.1:p.Ser562LysfsTer19
ENST00000685018.2:c.1867dup	ENSP00000510194.2:p.Ser623LysfsTer19
ENST00000687278.2:c.1867dup	ENSP00000509593.2:p.Ser623LysfsTer19
ENST00000699585.1:c.1867dup	ENSP00000514456.1:p.Ser623LysfsTer19
ENST00000699598.1:c.1867dup	ENSP00000514467.1:p.Ser623LysfsTer19
ENST00000699599.1:c.1867dup	ENSP00000514468.1:p.Ser623LysfsTer19
ENST00000699600.1:c.1867dup	ENSP00000514469.1:p.Ser623LysfsTer19
ENST00000699601.1:c.*167dup	ENSP00000514470.1:n.*167dup
ENST00000699602.1:c.1867dup	ENSP00000514471.1:p.Ser623LysfsTer19
ENST00000699604.1:c.*1691dup	ENSP00000514472.1:n.*1691dup
ENST00000699605.1:c.1441dup	ENSP00000514473.1:p.Ser481LysfsTer19
ENST00000003084.11:c.1867dup MANE Select	ENSP00000003084.6:p.Ser623LysfsTer19
ENST00000647978.1:c.*1581dup	ENSP00000497658.1:n.*1581dup
ENST00000648260.1:c.1402-10792dup	ENSP00000497957.1:n.1402-10792dup
ENST00000649406.1:c.1684dup	ENSP00000497965.1:p.Ser562LysfsTer19
ENST00000649781.1:c.1684dup	ENSP00000497203.1:p.Ser562LysfsTer19
ENST00000003084.10:c.1867dup	ENSP00000003084.6:p.Ser623LysfsTer19
ENST00000426809.5:c.1777dup	ENSP00000389119.1:p.Ser593LysfsTer19
NM_000492.3:c.1867dup , LRG_663t1:c.1867dup	NP_000483.3:p.Ser623LysfsTer19
XM_011515751.1:c.1957dup	XP_011514053.1:p.Ser653LysfsTer19
XM_011515752.1:c.1957dup	XP_011514054.1:p.Ser653LysfsTer19
XM_011515753.1:c.1624dup	XP_011514055.1:p.Ser542LysfsTer19
XM_011515754.1:c.1624dup	XP_011514056.1:p.Ser542LysfsTer19
NM_000492.4:c.1867dup MANE Select	NP_000483.3:p.Ser623LysfsTer19