Canonical Allele Identifier: CA1737331881

Gene: CFTR

Linked Data

• dbSNP Id: rs121908768

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117540165_117540167dup , CM000669.2:g.117540165_117540167dup	GRCh38
NC_000007.13:g.117180219_117180221dup , CM000669.1:g.117180219_117180221dup	GRCh37
NC_000007.12:g.116967455_116967457dup	NCBI36
NG_016465.4:g.79382_79384dup , LRG_663:g.79382_79384dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.935_937dup	ENSP00000497673.2:p.Phe312_Ser313insPhe
ENST00000647978.2:c.*832_*834dup	ENSP00000497658.1:n.*832_*834dup
ENST00000649781.2:c.935_937dup	ENSP00000497203.1:p.Phe312_Ser313insPhe
ENST00000685018.2:c.935_937dup	ENSP00000510194.2:p.Phe312_Ser313insPhe
ENST00000687278.2:c.935_937dup	ENSP00000509593.2:p.Phe312_Ser313insPhe
ENST00000699585.1:c.935_937dup	ENSP00000514456.1:p.Phe312_Ser313insPhe
ENST00000699596.1:c.935_937dup	ENSP00000514465.1:p.Phe312_Ser313insPhe
ENST00000699597.1:c.935_937dup	ENSP00000514466.1:p.Phe312_Ser313insPhe
ENST00000699598.1:c.935_937dup	ENSP00000514467.1:p.Phe312_Ser313insPhe
ENST00000699599.1:c.935_937dup	ENSP00000514468.1:p.Phe312_Ser313insPhe
ENST00000699600.1:c.935_937dup	ENSP00000514469.1:p.Phe312_Ser313insPhe
ENST00000699601.1:c.935_937dup	ENSP00000514470.1:p.Phe312_Ser313insPhe
ENST00000699602.1:c.935_937dup	ENSP00000514471.1:p.Phe312_Ser313insPhe
ENST00000699604.1:c.*759_*761dup	ENSP00000514472.1:n.*759_*761dup
ENST00000699605.1:c.692_694dup	ENSP00000514473.1:p.Phe231_Ser232insPhe
ENST00000003084.11:c.935_937dup MANE Select	ENSP00000003084.6:p.Phe312_Ser313insPhe
ENST00000647978.1:c.*832_*834dup	ENSP00000497658.1:n.*832_*834dup
ENST00000648260.1:c.935_937dup	ENSP00000497957.1:p.Phe312_Ser313insPhe
ENST00000649406.1:c.935_937dup	ENSP00000497965.1:p.Phe312_Ser313insPhe
ENST00000649781.1:c.935_937dup	ENSP00000497203.1:p.Phe312_Ser313insPhe
ENST00000673785.1:c.692_694dup	ENSP00000501235.1:p.Phe231_Ser232insPhe
ENST00000003084.10:c.935_937dup	ENSP00000003084.6:p.Phe312_Ser313insPhe
ENST00000426809.5:c.845_847dup	ENSP00000389119.1:p.Phe282_Ser283insPhe
NM_000492.3:c.935_937dup , LRG_663t1:c.935_937dup	NP_000483.3:p.Phe312_Ser313insPhe
XM_011515751.1:c.1025_1027dup	XP_011514053.1:p.Phe342_Ser343insPhe
XM_011515752.1:c.1025_1027dup	XP_011514054.1:p.Phe342_Ser343insPhe
XM_011515753.1:c.692_694dup	XP_011514055.1:p.Phe231_Ser232insPhe
XM_011515754.1:c.692_694dup	XP_011514056.1:p.Phe231_Ser232insPhe
NM_000492.4:c.935_937dup MANE Select	NP_000483.3:p.Phe312_Ser313insPhe