Canonical Allele Identifier: CA658683497

Gene: CFTR

Linked Data

• ClinVar Variation Id: 495925
• ClinVar RCV Id: RCV000587706
• dbSNP Id: rs1554392063
• gnomAD v4: 7-117610707-AG-A
• MyVariant Identifiers: chr7:g.117250762del (hg19) ; chr7:g.117610708del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610708del , CM000669.2:g.117610708del	GRCh38
NC_000007.13:g.117250762del , CM000669.1:g.117250762del	GRCh37
NC_000007.12:g.117037998del	NCBI36
NG_016465.4:g.149925del , LRG_663:g.149925del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3139+39del	ENSP00000497673.2:n.3139+39del
ENST00000647978.2:c.*2853+39del	ENSP00000497658.1:n.*2853+39del
ENST00000649781.2:c.2956+39del	ENSP00000497203.1:n.2956+39del
ENST00000685018.2:c.3139+39del	ENSP00000510194.2:n.3139+39del
ENST00000687278.2:c.3139+39del	ENSP00000509593.2:n.3139+39del
ENST00000699585.1:c.3139+39del	ENSP00000514456.1:n.3139+39del
ENST00000699598.1:c.3139+39del	ENSP00000514467.1:n.3139+39del
ENST00000699599.1:c.3139+39del	ENSP00000514468.1:n.3139+39del
ENST00000699600.1:c.3139+39del	ENSP00000514469.1:n.3139+39del
ENST00000699601.1:c.*1439+39del	ENSP00000514470.1:n.*1439+39del
ENST00000699602.1:c.3139+39del	ENSP00000514471.1:n.3139+39del
ENST00000699604.1:c.*2963+39del	ENSP00000514472.1:n.*2963+39del
ENST00000699605.1:c.2713+39del	ENSP00000514473.1:n.2713+39del
ENST00000687278.1:c.730+39del	ENSP00000509593.1:n.730+39del
ENST00000003084.11:c.3139+39del MANE Select	ENSP00000003084.6:n.3139+39del
ENST00000647720.1:c.789+39del
ENST00000648260.1:c.1921+39del	ENSP00000497957.1:n.1921+39del
ENST00000649406.1:c.2956+39del	ENSP00000497965.1:n.2956+39del
ENST00000649781.1:c.2956+39del	ENSP00000497203.1:n.2956+39del
ENST00000003084.10:c.3139+39del	ENSP00000003084.6:n.3139+39del
ENST00000426809.5:c.3049+39del	ENSP00000389119.1:n.3049+39del
NM_000492.3:c.3139+39del , LRG_663t1:c.3139+39del	NP_000483.3:n.3139+39del
XM_011515751.1:c.3229+39del	XP_011514053.1:n.3229+39del
XM_011515752.1:c.3229+39del	XP_011514054.1:n.3229+39del
XM_011515753.1:c.2896+39del	XP_011514055.1:n.2896+39del
XM_011515754.1:c.2896+39del	XP_011514056.1:n.2896+39del
NM_000492.4:c.3139+39del MANE Select	NP_000483.3:n.3139+39del