Canonical Allele Identifier: CA326902

Gene: CFTR

Linked Data

• dbSNP Id: rs397508424
• MyVariant Identifiers: chr7:g.117603610dupG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603610dup , CM000669.2:g.117603610dup	GRCh38
NC_000007.13:g.117243664dup , CM000669.1:g.117243664dup	GRCh37
NC_000007.12:g.117030900dup	NCBI36
NG_016465.4:g.142827dup , LRG_663:g.142827dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2736dup	ENSP00000497673.2:p.Tyr913ValfsTer?
ENST00000647978.2:c.*2450dup	ENSP00000497658.1:n.*2450dup
ENST00000649781.2:c.2553dup	ENSP00000497203.1:p.Tyr852ValfsTer?
ENST00000685018.2:c.2736dup	ENSP00000510194.2:p.Tyr913ValfsTer?
ENST00000687278.2:c.2736dup	ENSP00000509593.2:p.Tyr913ValfsTer?
ENST00000699585.1:c.2736dup	ENSP00000514456.1:p.Tyr913ValfsTer?
ENST00000699598.1:c.2736dup	ENSP00000514467.1:p.Tyr913ValfsTer?
ENST00000699599.1:c.2736dup	ENSP00000514468.1:p.Tyr913ValfsTer?
ENST00000699600.1:c.2736dup	ENSP00000514469.1:p.Tyr913ValfsTer?
ENST00000699601.1:c.*1036dup	ENSP00000514470.1:n.*1036dup
ENST00000699602.1:c.2736dup	ENSP00000514471.1:p.Tyr913ValfsTer?
ENST00000699604.1:c.*2560dup	ENSP00000514472.1:n.*2560dup
ENST00000699605.1:c.2310dup	ENSP00000514473.1:p.Tyr771ValfsTer?
ENST00000687278.1:c.327dup	ENSP00000509593.1:p.Tyr110ValfsTer?
ENST00000003084.11:c.2736dup MANE Select	ENSP00000003084.6:p.Tyr913ValfsTer?
ENST00000647720.1:c.386dup
ENST00000648260.1:c.1518dup	ENSP00000497957.1:p.Tyr507ValfsTer?
ENST00000649406.1:c.2553dup	ENSP00000497965.1:p.Tyr852ValfsTer?
ENST00000649781.1:c.2553dup	ENSP00000497203.1:p.Tyr852ValfsTer?
ENST00000003084.10:c.2736dup	ENSP00000003084.6:p.Tyr913ValfsTer?
ENST00000426809.5:c.2646dup	ENSP00000389119.1:p.Tyr883ValfsTer?
NM_000492.3:c.2736dup , LRG_663t1:c.2736dup	NP_000483.3:p.Tyr913ValfsTer?
XM_011515751.1:c.2826dup	XP_011514053.1:p.Tyr943ValfsTer?
XM_011515752.1:c.2826dup	XP_011514054.1:p.Tyr943ValfsTer?
XM_011515753.1:c.2493dup	XP_011514055.1:p.Tyr832ValfsTer?
XM_011515754.1:c.2493dup	XP_011514056.1:p.Tyr832ValfsTer?
NM_000492.4:c.2736dup MANE Select	NP_000483.3:p.Tyr913ValfsTer?