Canonical Allele Identifier: CA4450855

Gene: CFTR

Linked Data

• ClinVar Variation Id: 439088
• ClinVar RCV Id: RCV000506879 ; RCV000868641 ; RCV003114635 ; RCV003942659
• dbSNP Id: rs759762840
• ExAC: 7:117180143 GTTT / G
• gnomAD v2: 7-117180143-GTTT-G
• gnomAD v3: 7-117540089-GTTT-G
• gnomAD v4: 7-117540089-GTTT-G
• MyVariant Identifiers: chr7:g.117180147_117180149del (hg19) ; chr7:g.117180144_117180146del (hg19) ; chr7:g.117540093_117540095del (hg38) ; chr7:g.117540090_117540092del (hg38)
• PubMed: PMID:17716958 ; PMID:26574590

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117540093_117540095del , CM000669.2:g.117540093_117540095del	GRCh38
NC_000007.13:g.117180147_117180149del , CM000669.1:g.117180147_117180149del	GRCh37
NC_000007.12:g.116967383_116967385del	NCBI36
NG_016465.4:g.79310_79312del , LRG_663:g.79310_79312del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.870-7_870-5del	ENSP00000497673.2:n.870-7_870-5del
ENST00000647978.2:c.*767-7_*767-5del	ENSP00000497658.1:n.*767-7_*767-5del
ENST00000649781.2:c.870-7_870-5del	ENSP00000497203.1:n.870-7_870-5del
ENST00000685018.2:c.870-7_870-5del	ENSP00000510194.2:n.870-7_870-5del
ENST00000687278.2:c.870-7_870-5del	ENSP00000509593.2:n.870-7_870-5del
ENST00000699585.1:c.870-7_870-5del	ENSP00000514456.1:n.870-7_870-5del
ENST00000699596.1:c.870-7_870-5del	ENSP00000514465.1:n.870-7_870-5del
ENST00000699597.1:c.870-7_870-5del	ENSP00000514466.1:n.870-7_870-5del
ENST00000699598.1:c.870-7_870-5del	ENSP00000514467.1:n.870-7_870-5del
ENST00000699599.1:c.870-7_870-5del	ENSP00000514468.1:n.870-7_870-5del
ENST00000699600.1:c.870-7_870-5del	ENSP00000514469.1:n.870-7_870-5del
ENST00000699601.1:c.870-7_870-5del	ENSP00000514470.1:n.870-7_870-5del
ENST00000699602.1:c.870-7_870-5del	ENSP00000514471.1:n.870-7_870-5del
ENST00000699604.1:c.*694-7_*694-5del	ENSP00000514472.1:n.*694-7_*694-5del
ENST00000699605.1:c.627-7_627-5del	ENSP00000514473.1:n.627-7_627-5del
ENST00000003084.11:c.870-7_870-5del MANE Select	ENSP00000003084.6:n.870-7_870-5del
ENST00000647978.1:c.*767-7_*767-5del	ENSP00000497658.1:n.*767-7_*767-5del
ENST00000648260.1:c.870-7_870-5del	ENSP00000497957.1:n.870-7_870-5del
ENST00000649406.1:c.870-7_870-5del	ENSP00000497965.1:n.870-7_870-5del
ENST00000649781.1:c.870-7_870-5del	ENSP00000497203.1:n.870-7_870-5del
ENST00000673785.1:c.627-7_627-5del	ENSP00000501235.1:n.627-7_627-5del
ENST00000003084.10:c.870-7_870-5del	ENSP00000003084.6:n.870-7_870-5del
ENST00000426809.5:c.780-7_780-5del	ENSP00000389119.1:n.780-7_780-5del
NM_000492.3:c.870-7_870-5del , LRG_663t1:c.870-7_870-5del	NP_000483.3:n.870-7_870-5del
XM_011515751.1:c.960-7_960-5del	XP_011514053.1:n.960-7_960-5del
XM_011515752.1:c.960-7_960-5del	XP_011514054.1:n.960-7_960-5del
XM_011515753.1:c.627-7_627-5del	XP_011514055.1:n.627-7_627-5del
XM_011515754.1:c.627-7_627-5del	XP_011514056.1:n.627-7_627-5del
NM_000492.4:c.870-7_870-5del MANE Select	NP_000483.3:n.870-7_870-5del