Canonical Allele Identifier: CA340649

Gene: CFTR

Linked Data

• ClinVar Variation Id: 7175
• ClinVar RCV Id: RCV001509317 ; RCV001826439
• dbSNP Id: rs141158996
• ExAC: 7:117232712 G / A
• gnomAD v2: 7-117232712-G-A
• gnomAD v3: 7-117592658-G-A
• gnomAD v4: 7-117592658-G-A
• MyVariant Identifiers: chr7:g.117232712G>A (hg19) ; chr7:g.117592658G>A (hg38)
• PubMed: PMID:7683952 ; PMID:9239681 ; PMID:12215837 ; PMID:12815607 ; PMID:15024729 ; PMID:20059485 ; PMID:23974870 ; PMID:24697796

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592658G>A , CM000669.2:g.117592658G>A	GRCh38
NC_000007.13:g.117232712G>A , CM000669.1:g.117232712G>A	GRCh37
NC_000007.12:g.117019948G>A	NCBI36
NG_016465.4:g.131875G>A , LRG_663:g.131875G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2490+1G>A	ENSP00000497673.2:n.2490+1G>A
ENST00000647978.2:c.*2204+1G>A	ENSP00000497658.1:n.*2204+1G>A
ENST00000649781.2:c.2307+1G>A	ENSP00000497203.1:n.2307+1G>A
ENST00000685018.2:c.2490+1G>A	ENSP00000510194.2:n.2490+1G>A
ENST00000687278.2:c.2490+1G>A	ENSP00000509593.2:n.2490+1G>A
ENST00000699585.1:c.2490+1G>A	ENSP00000514456.1:n.2490+1G>A
ENST00000699598.1:c.2490+1G>A	ENSP00000514467.1:n.2490+1G>A
ENST00000699599.1:c.2490+1G>A	ENSP00000514468.1:n.2490+1G>A
ENST00000699600.1:c.2490+1G>A	ENSP00000514469.1:n.2490+1G>A
ENST00000699601.1:c.*790+1G>A	ENSP00000514470.1:n.*790+1G>A
ENST00000699602.1:c.2490+1G>A	ENSP00000514471.1:n.2490+1G>A
ENST00000699604.1:c.*2314+1G>A	ENSP00000514472.1:n.*2314+1G>A
ENST00000699605.1:c.2064+1G>A	ENSP00000514473.1:n.2064+1G>A
ENST00000687278.1:c.81+1G>A	ENSP00000509593.1:n.81+1G>A
ENST00000003084.11:c.2490+1G>A MANE Select	ENSP00000003084.6:n.2490+1G>A
ENST00000647720.1:c.140+1G>A
ENST00000647978.1:c.*2204+1G>A	ENSP00000497658.1:n.*2204+1G>A
ENST00000648260.1:c.1402-10168G>A	ENSP00000497957.1:n.1402-10168G>A
ENST00000649406.1:c.2307+1G>A	ENSP00000497965.1:n.2307+1G>A
ENST00000649781.1:c.2307+1G>A	ENSP00000497203.1:n.2307+1G>A
ENST00000003084.10:c.2490+1G>A	ENSP00000003084.6:n.2490+1G>A
ENST00000426809.5:c.2400+1G>A	ENSP00000389119.1:n.2400+1G>A
NM_000492.3:c.2490+1G>A , LRG_663t1:c.2490+1G>A	NP_000483.3:n.2490+1G>A
XM_011515751.1:c.2580+1G>A	XP_011514053.1:n.2580+1G>A
XM_011515752.1:c.2580+1G>A	XP_011514054.1:n.2580+1G>A
XM_011515753.1:c.2247+1G>A	XP_011514055.1:n.2247+1G>A
XM_011515754.1:c.2247+1G>A	XP_011514056.1:n.2247+1G>A
NM_000492.4:c.2490+1G>A MANE Select	NP_000483.3:n.2490+1G>A