Canonical Allele Identifier: CA913189832

Gene: CFTR

Linked Data

• ClinVar Variation Id: 634830
• ClinVar RCV Id: RCV000785631
• dbSNP Id: rs1562914072
• gnomAD v4: 7-117610538-GAGCTATAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610541_117610549del , CM000669.2:g.117610541_117610549del	GRCh38
NC_000007.13:g.117250595_117250603del , CM000669.1:g.117250595_117250603del	GRCh37
NC_000007.12:g.117037831_117037839del	NCBI36
NG_016465.4:g.149758_149766del , LRG_663:g.149758_149766del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3011_3019del	ENSP00000497673.2:p.Ala1004_Ala1006del
ENST00000647978.2:c.*2725_*2733del	ENSP00000497658.1:n.*2725_*2733del
ENST00000649781.2:c.2828_2836del	ENSP00000497203.1:p.Ala943_Ala945del
ENST00000685018.2:c.3011_3019del	ENSP00000510194.2:p.Ala1004_Ala1006del
ENST00000687278.2:c.3011_3019del	ENSP00000509593.2:p.Ala1004_Ala1006del
ENST00000699585.1:c.3011_3019del	ENSP00000514456.1:p.Ala1004_Ala1006del
ENST00000699598.1:c.3011_3019del	ENSP00000514467.1:p.Ala1004_Ala1006del
ENST00000699599.1:c.3011_3019del	ENSP00000514468.1:p.Ala1004_Ala1006del
ENST00000699600.1:c.3011_3019del	ENSP00000514469.1:p.Ala1004_Ala1006del
ENST00000699601.1:c.*1311_*1319del	ENSP00000514470.1:n.*1311_*1319del
ENST00000699602.1:c.3011_3019del	ENSP00000514471.1:p.Ala1004_Ala1006del
ENST00000699604.1:c.*2835_*2843del	ENSP00000514472.1:n.*2835_*2843del
ENST00000699605.1:c.2585_2593del	ENSP00000514473.1:p.Ala862_Ala864del
ENST00000687278.1:c.602_610del	ENSP00000509593.1:p.Ala201_Ala203del
ENST00000003084.11:c.3011_3019del MANE Select	ENSP00000003084.6:p.Ala1004_Ala1006del
ENST00000647720.1:c.661_669del
ENST00000648260.1:c.1793_1801del	ENSP00000497957.1:p.Ala598_Ala600del
ENST00000649406.1:c.2828_2836del	ENSP00000497965.1:p.Ala943_Ala945del
ENST00000649781.1:c.2828_2836del	ENSP00000497203.1:p.Ala943_Ala945del
ENST00000003084.10:c.3011_3019del	ENSP00000003084.6:p.Ala1004_Ala1006del
ENST00000426809.5:c.2921_2929del	ENSP00000389119.1:p.Ala974_Ala976del
NM_000492.3:c.3011_3019del , LRG_663t1:c.3011_3019del	NP_000483.3:p.Ala1004_Ala1006del
XM_011515751.1:c.3101_3109del	XP_011514053.1:p.Ala1034_Ala1036del
XM_011515752.1:c.3101_3109del	XP_011514054.1:p.Ala1034_Ala1036del
XM_011515753.1:c.2768_2776del	XP_011514055.1:p.Ala923_Ala925del
XM_011515754.1:c.2768_2776del	XP_011514056.1:p.Ala923_Ala925del
NM_000492.4:c.3011_3019del MANE Select	NP_000483.3:p.Ala1004_Ala1006del