Canonical Allele Identifier: CA1139768406

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1012572
• ClinVar RCV Id: RCV001310597
• dbSNP Id: rs1798959295

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117536541_117536544del , CM000669.2:g.117536541_117536544del	GRCh38
NC_000007.13:g.117176595_117176598del , CM000669.1:g.117176595_117176598del	GRCh37
NC_000007.12:g.116963831_116963834del	NCBI36
NG_016465.4:g.75758_75761del , LRG_663:g.75758_75761del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.744-7_744-4del	ENSP00000497673.2:n.744-7_744-4del
ENST00000647978.2:c.*641-7_*641-4del	ENSP00000497658.1:n.*641-7_*641-4del
ENST00000649781.2:c.744-7_744-4del	ENSP00000497203.1:n.744-7_744-4del
ENST00000685018.2:c.744-7_744-4del	ENSP00000510194.2:n.744-7_744-4del
ENST00000687278.2:c.744-7_744-4del	ENSP00000509593.2:n.744-7_744-4del
ENST00000699585.1:c.744-7_744-4del	ENSP00000514456.1:n.744-7_744-4del
ENST00000699596.1:c.744-7_744-4del	ENSP00000514465.1:n.744-7_744-4del
ENST00000699597.1:c.744-7_744-4del	ENSP00000514466.1:n.744-7_744-4del
ENST00000699598.1:c.744-7_744-4del	ENSP00000514467.1:n.744-7_744-4del
ENST00000699599.1:c.744-7_744-4del	ENSP00000514468.1:n.744-7_744-4del
ENST00000699600.1:c.744-7_744-4del	ENSP00000514469.1:n.744-7_744-4del
ENST00000699601.1:c.744-7_744-4del	ENSP00000514470.1:n.744-7_744-4del
ENST00000699602.1:c.744-7_744-4del	ENSP00000514471.1:n.744-7_744-4del
ENST00000699604.1:c.*568-7_*568-4del	ENSP00000514472.1:n.*568-7_*568-4del
ENST00000699605.1:c.501-7_501-4del	ENSP00000514473.1:n.501-7_501-4del
ENST00000003084.11:c.744-7_744-4del MANE Select	ENSP00000003084.6:n.744-7_744-4del
ENST00000647978.1:c.*641-7_*641-4del	ENSP00000497658.1:n.*641-7_*641-4del
ENST00000648260.1:c.744-7_744-4del	ENSP00000497957.1:n.744-7_744-4del
ENST00000649406.1:c.744-7_744-4del	ENSP00000497965.1:n.744-7_744-4del
ENST00000649781.1:c.744-7_744-4del	ENSP00000497203.1:n.744-7_744-4del
ENST00000673785.1:c.501-7_501-4del	ENSP00000501235.1:n.501-7_501-4del
ENST00000003084.10:c.744-7_744-4del	ENSP00000003084.6:n.744-7_744-4del
ENST00000426809.5:c.654-7_654-4del	ENSP00000389119.1:n.654-7_654-4del
NM_000492.3:c.744-7_744-4del , LRG_663t1:c.744-7_744-4del	NP_000483.3:n.744-7_744-4del
XM_011515751.1:c.834-7_834-4del	XP_011514053.1:n.834-7_834-4del
XM_011515752.1:c.834-7_834-4del	XP_011514054.1:n.834-7_834-4del
XM_011515753.1:c.501-7_501-4del	XP_011514055.1:n.501-7_501-4del
XM_011515754.1:c.501-7_501-4del	XP_011514056.1:n.501-7_501-4del
NM_000492.4:c.744-7_744-4del MANE Select	NP_000483.3:n.744-7_744-4del