Canonical Allele Identifier: CA340632

Gene: CFTR

Linked Data

• ClinVar Variation Id: 7112
• ClinVar RCV Id: RCV000007532 ; RCV000224919 ; RCV001027893 ; RCV001004462 ; RCV002496295 ; RCV003473004
• dbSNP Id: rs76713772
• ExAC: 7:117227792 G / A
• gnomAD v2: 7-117227792-G-A
• gnomAD v3: 7-117587738-G-A
• gnomAD v4: 7-117587738-G-A
• MyVariant Identifiers: chr7:g.117227792G>A (hg19) ; chr7:g.117587738G>A (hg38)
• PubMed: PMID:1283148 ; PMID:2210769 ; PMID:2236053 ; PMID:3110945 ; PMID:7506096 ; PMID:8698344 ; PMID:8707306 ; PMID:9150843 ; PMID:9272157 ; PMID:11168024 ; PMID:11280952 ; PMID:12767731 ; PMID:15709055 ; PMID:21296036 ; PMID:23974870

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587738G>A , CM000669.2:g.117587738G>A	GRCh38
NC_000007.13:g.117227792G>A , CM000669.1:g.117227792G>A	GRCh37
NC_000007.12:g.117015028G>A	NCBI36
NG_016465.4:g.126955G>A , LRG_663:g.126955G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1585-1G>A	ENSP00000497673.2:n.1585-1G>A
ENST00000647978.2:c.*1299-1G>A	ENSP00000497658.1:n.*1299-1G>A
ENST00000649781.2:c.1402-1G>A	ENSP00000497203.1:n.1402-1G>A
ENST00000685018.2:c.1585-1G>A	ENSP00000510194.2:n.1585-1G>A
ENST00000687278.2:c.1585-1G>A	ENSP00000509593.2:n.1585-1G>A
ENST00000699585.1:c.1585-1G>A	ENSP00000514456.1:n.1585-1G>A
ENST00000699598.1:c.1585-1G>A	ENSP00000514467.1:n.1585-1G>A
ENST00000699599.1:c.1585-1G>A	ENSP00000514468.1:n.1585-1G>A
ENST00000699600.1:c.1585-1G>A	ENSP00000514469.1:n.1585-1G>A
ENST00000699601.1:c.1585-1G>A	ENSP00000514470.1:n.1585-1G>A
ENST00000699602.1:c.1585-1G>A	ENSP00000514471.1:n.1585-1G>A
ENST00000699604.1:c.*1409-1G>A	ENSP00000514472.1:n.*1409-1G>A
ENST00000699605.1:c.1159-1G>A	ENSP00000514473.1:n.1159-1G>A
ENST00000003084.11:c.1585-1G>A MANE Select	ENSP00000003084.6:n.1585-1G>A
ENST00000647978.1:c.*1299-1G>A	ENSP00000497658.1:n.*1299-1G>A
ENST00000648260.1:c.1402-15088G>A	ENSP00000497957.1:n.1402-15088G>A
ENST00000649406.1:c.1402-1G>A	ENSP00000497965.1:n.1402-1G>A
ENST00000649781.1:c.1402-1G>A	ENSP00000497203.1:n.1402-1G>A
ENST00000003084.10:c.1585-1G>A	ENSP00000003084.6:n.1585-1G>A
ENST00000426809.5:c.1495-1G>A	ENSP00000389119.1:n.1495-1G>A
ENST00000472848.1:n.138-1G>A
NM_000492.3:c.1585-1G>A , LRG_663t1:c.1585-1G>A	NP_000483.3:n.1585-1G>A
XM_011515751.1:c.1675-1G>A	XP_011514053.1:n.1675-1G>A
XM_011515752.1:c.1675-1G>A	XP_011514054.1:n.1675-1G>A
XM_011515753.1:c.1342-1G>A	XP_011514055.1:n.1342-1G>A
XM_011515754.1:c.1342-1G>A	XP_011514056.1:n.1342-1G>A
NM_000492.4:c.1585-1G>A MANE Select	NP_000483.3:n.1585-1G>A