Canonical Allele Identifier: CA326784

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53465
• ClinVar RCV Id: RCV000046566 ; RCV000589543 ; RCV000242825 ; RCV001163690 ; RCV002255272
• dbSNP Id: rs150157202
• ExAC: 7:117232481 G / A
• gnomAD v2: 7-117232481-G-A
• gnomAD v3: 7-117592427-G-A
• gnomAD v4: 7-117592427-G-A
• MyVariant Identifiers: chr7:g.117232481G>A (hg19) ; chr7:g.117592427G>A (hg38)
• PubMed: PMID:9921909 ; PMID:10077727 ; PMID:10376575 ; PMID:10798368 ; PMID:11001817 ; PMID:15151509 ; PMID:15520400 ; PMID:15987793 ; PMID:16786510 ; PMID:17003641 ; PMID:17413420 ; PMID:17572159 ; PMID:20021716 ; PMID:20920895 ; PMID:21416780 ; PMID:23276700 ; PMID:23670503 ; PMID:23974870 ; PMID:25674778 ; PMID:25797027 ; PMID:25824995 ; PMID:25910067

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592427G>A , CM000669.2:g.117592427G>A	GRCh38
NC_000007.13:g.117232481G>A , CM000669.1:g.117232481G>A	GRCh37
NC_000007.12:g.117019717G>A	NCBI36
NG_016465.4:g.131644G>A , LRG_663:g.131644G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2260G>A	ENSP00000497673.2:p.Val754Met
ENST00000647978.2:c.*1974G>A	ENSP00000497658.1:n.*1974G>A
ENST00000649781.2:c.2077G>A	ENSP00000497203.1:p.Val693Met
ENST00000685018.2:c.2260G>A	ENSP00000510194.2:p.Val754Met
ENST00000687278.2:c.2260G>A	ENSP00000509593.2:p.Val754Met
ENST00000699585.1:c.2260G>A	ENSP00000514456.1:p.Val754Met
ENST00000699598.1:c.2260G>A	ENSP00000514467.1:p.Val754Met
ENST00000699599.1:c.2260G>A	ENSP00000514468.1:p.Val754Met
ENST00000699600.1:c.2260G>A	ENSP00000514469.1:p.Val754Met
ENST00000699601.1:c.*560G>A	ENSP00000514470.1:n.*560G>A
ENST00000699602.1:c.2260G>A	ENSP00000514471.1:p.Val754Met
ENST00000699604.1:c.*2084G>A	ENSP00000514472.1:n.*2084G>A
ENST00000699605.1:c.1834G>A	ENSP00000514473.1:p.Val612Met
ENST00000003084.11:c.2260G>A MANE Select	ENSP00000003084.6:p.Val754Met
ENST00000647978.1:c.*1974G>A	ENSP00000497658.1:n.*1974G>A
ENST00000648260.1:c.1402-10399G>A	ENSP00000497957.1:n.1402-10399G>A
ENST00000649406.1:c.2077G>A	ENSP00000497965.1:p.Val693Met
ENST00000649781.1:c.2077G>A	ENSP00000497203.1:p.Val693Met
ENST00000003084.10:c.2260G>A	ENSP00000003084.6:p.Val754Met
ENST00000426809.5:c.2170G>A	ENSP00000389119.1:p.Val724Met
NM_000492.3:c.2260G>A , LRG_663t1:c.2260G>A	NP_000483.3:p.Val754Met
XM_011515751.1:c.2350G>A	XP_011514053.1:p.Val784Met
XM_011515752.1:c.2350G>A	XP_011514054.1:p.Val784Met
XM_011515753.1:c.2017G>A	XP_011514055.1:p.Val673Met
XM_011515754.1:c.2017G>A	XP_011514056.1:p.Val673Met
NM_000492.4:c.2260G>A MANE Select	NP_000483.3:p.Val754Met