Canonical Allele Identifier: CA327446

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53917
• ClinVar RCV Id: RCV001009423
• dbSNP Id: rs397508695
• MyVariant Identifiers: chr7:g.117305576_117305577del (hg19) ; chr7:g.117305574_117305575del (hg19) ; chr7:g.117665522_117665523del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665522_117665523del , CM000669.2:g.117665522_117665523del	GRCh38
NC_000007.13:g.117305576_117305577del , CM000669.1:g.117305576_117305577del	GRCh37
NC_000007.12:g.117092812_117092813del	NCBI36
NG_016465.4:g.204739_204740del , LRG_663:g.204739_204740del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*409_*410del	ENSP00000497673.2:n.*409_*410del
ENST00000647978.2:c.*3914_*3915del	ENSP00000497658.1:n.*3914_*3915del
ENST00000649781.2:c.4017_4018del	ENSP00000497203.1:p.Cys1339Ter
ENST00000685018.2:c.*413_*414del	ENSP00000510194.2:n.*413_*414del
ENST00000687278.2:c.*853_*854del	ENSP00000509593.2:n.*853_*854del
ENST00000699585.1:c.*409_*410del	ENSP00000514456.1:n.*409_*410del
ENST00000699598.1:c.4200_4201del	ENSP00000514467.1:p.Cys1400Ter
ENST00000699599.1:c.*413_*414del	ENSP00000514468.1:n.*413_*414del
ENST00000699600.1:c.*861_*862del	ENSP00000514469.1:n.*861_*862del
ENST00000699601.1:c.*2575_*2576del	ENSP00000514470.1:n.*2575_*2576del
ENST00000699602.1:c.4194_4195del	ENSP00000514471.1:p.Cys1398Ter
ENST00000699604.1:c.*4024_*4025del	ENSP00000514472.1:n.*4024_*4025del
ENST00000699605.1:c.3774_3775del	ENSP00000514473.1:p.Cys1258Ter
ENST00000699606.1:n.2368_2369del
ENST00000685018.1:c.1064_1065del	ENSP00000510194.1:n.1064_1065del
ENST00000687278.1:c.1987_1988del	ENSP00000509593.1:n.1987_1988del
ENST00000689011.1:c.782_783del
ENST00000003084.11:c.4200_4201del MANE Select	ENSP00000003084.6:p.Cys1400Ter
ENST00000647720.1:c.1650_1651del
ENST00000649781.1:c.4017_4018del	ENSP00000497203.1:p.Cys1339Ter
ENST00000003084.10:c.4200_4201del	ENSP00000003084.6:p.Cys1400Ter
ENST00000426809.5:c.4110_4111del	ENSP00000389119.1:p.Cys1370Ter
ENST00000600166.1:c.326_327del
NM_000492.3:c.4200_4201del , LRG_663t1:c.4200_4201del	NP_000483.3:p.Cys1400Ter
XM_011515751.1:c.4290_4291del	XP_011514053.1:p.Cys1430Ter
XM_011515752.1:c.4290_4291del	XP_011514054.1:p.Cys1430Ter
XM_011515753.1:c.3957_3958del	XP_011514055.1:p.Cys1319Ter
XM_011515754.1:c.3957_3958del	XP_011514056.1:p.Cys1319Ter
NM_000492.4:c.4200_4201del MANE Select	NP_000483.3:p.Cys1400Ter