Canonical Allele Identifier: CA327193

Gene: CFTR

Linked Data

• dbSNP Id: rs397508566
• MyVariant Identifiers: chr7:g.117254744del (hg19) ; chr7:g.117614690del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614690del , CM000669.2:g.117614690del	GRCh38
NC_000007.13:g.117254744del , CM000669.1:g.117254744del	GRCh37
NC_000007.12:g.117041980del	NCBI36
NG_016465.4:g.153907del , LRG_663:g.153907del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3445del	ENSP00000497673.2:p.Ser1149ProfsTer3
ENST00000647978.2:c.*3159del	ENSP00000497658.1:n.*3159del
ENST00000649781.2:c.3262del	ENSP00000497203.1:p.Ser1088ProfsTer3
ENST00000685018.2:c.3445del	ENSP00000510194.2:p.Ser1149ProfsTer3
ENST00000687278.2:c.3445del	ENSP00000509593.2:p.Ser1149ProfsTer3
ENST00000699585.1:c.3445del	ENSP00000514456.1:p.Ser1149ProfsTer3
ENST00000699598.1:c.3445del	ENSP00000514467.1:p.Ser1149ProfsTer3
ENST00000699599.1:c.3445del	ENSP00000514468.1:p.Ser1149ProfsTer3
ENST00000699600.1:c.3445del	ENSP00000514469.1:p.Ser1149ProfsTer3
ENST00000699601.1:c.*1820del	ENSP00000514470.1:n.*1820del
ENST00000699602.1:c.3439del	ENSP00000514471.1:p.Ser1147ProfsTer3
ENST00000699604.1:c.*3269del	ENSP00000514472.1:n.*3269del
ENST00000699605.1:c.3019del	ENSP00000514473.1:p.Ser1007ProfsTer3
ENST00000685018.1:c.193del	ENSP00000510194.1:p.Ser65ProfsTer3
ENST00000687278.1:c.1036del	ENSP00000509593.1:p.Ser346ProfsTer3
ENST00000689011.1:c.27del
ENST00000003084.11:c.3445del MANE Select	ENSP00000003084.6:p.Ser1149ProfsTer3
ENST00000647720.1:c.1095del
ENST00000648260.1:c.2227del	ENSP00000497957.1:p.Ser743ProfsTer3
ENST00000649406.1:c.3262del	ENSP00000497965.1:p.Ser1088ProfsTer3
ENST00000649781.1:c.3262del	ENSP00000497203.1:p.Ser1088ProfsTer3
ENST00000003084.10:c.3445del	ENSP00000003084.6:p.Ser1149ProfsTer3
ENST00000426809.5:c.3355del	ENSP00000389119.1:p.Ser1119ProfsTer3
ENST00000468795.1:c.270del
NM_000492.3:c.3445del , LRG_663t1:c.3445del	NP_000483.3:p.Ser1149ProfsTer3
XM_011515751.1:c.3535del	XP_011514053.1:p.Ser1179ProfsTer3
XM_011515752.1:c.3535del	XP_011514054.1:p.Ser1179ProfsTer3
XM_011515753.1:c.3202del	XP_011514055.1:p.Ser1068ProfsTer3
XM_011515754.1:c.3202del	XP_011514056.1:p.Ser1068ProfsTer3
NM_000492.4:c.3445del MANE Select	NP_000483.3:p.Ser1149ProfsTer3