Canonical Allele Identifier: CA340633

Gene: CFTR

Linked Data

• ClinVar Variation Id: 7113
• ClinVar RCV Id: RCV000007533 ; RCV000224789 ; RCV000780134 ; RCV001004262 ; RCV001831521 ; RCV002504762
• dbSNP Id: rs80055610
• ExAC: 7:117227887 G / C
• gnomAD v2: 7-117227887-G-C
• gnomAD v3: 7-117587833-G-C
• gnomAD v4: 7-117587833-G-C
• MyVariant Identifiers: chr7:g.117227887G>C (hg19) ; chr7:g.117587833G>C (hg38)
• PubMed: PMID:2236053 ; PMID:3110945 ; PMID:11180668 ; PMID:11280952 ; PMID:18456578 ; PMID:23974870

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587833G>C , CM000669.2:g.117587833G>C	GRCh38
NC_000007.13:g.117227887G>C , CM000669.1:g.117227887G>C	GRCh37
NC_000007.12:g.117015123G>C	NCBI36
NG_016465.4:g.127050G>C , LRG_663:g.127050G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1679G>C	ENSP00000497673.2:p.Arg560Thr
ENST00000647978.2:c.*1393G>C	ENSP00000497658.1:n.*1393G>C
ENST00000649781.2:c.1496G>C	ENSP00000497203.1:p.Arg499Thr
ENST00000685018.2:c.1679G>C	ENSP00000510194.2:p.Arg560Thr
ENST00000687278.2:c.1679G>C	ENSP00000509593.2:p.Arg560Thr
ENST00000699585.1:c.1679G>C	ENSP00000514456.1:p.Arg560Thr
ENST00000699598.1:c.1679G>C	ENSP00000514467.1:p.Arg560Thr
ENST00000699599.1:c.1679G>C	ENSP00000514468.1:p.Arg560Thr
ENST00000699600.1:c.1679G>C	ENSP00000514469.1:p.Arg560Thr
ENST00000699601.1:c.1679G>C	ENSP00000514470.1:p.Ser560Thr
ENST00000699602.1:c.1679G>C	ENSP00000514471.1:p.Arg560Thr
ENST00000699604.1:c.*1503G>C	ENSP00000514472.1:n.*1503G>C
ENST00000699605.1:c.1253G>C	ENSP00000514473.1:p.Arg418Thr
ENST00000003084.11:c.1679G>C MANE Select	ENSP00000003084.6:p.Arg560Thr
ENST00000647978.1:c.*1393G>C	ENSP00000497658.1:n.*1393G>C
ENST00000648260.1:c.1402-14993G>C	ENSP00000497957.1:n.1402-14993G>C
ENST00000649406.1:c.1496G>C	ENSP00000497965.1:p.Arg499Thr
ENST00000649781.1:c.1496G>C	ENSP00000497203.1:p.Arg499Thr
ENST00000003084.10:c.1679G>C	ENSP00000003084.6:p.Arg560Thr
ENST00000426809.5:c.1589G>C	ENSP00000389119.1:p.Arg530Thr
NM_000492.3:c.1679G>C , LRG_663t1:c.1679G>C	NP_000483.3:p.Arg560Thr
XM_011515751.1:c.1769G>C	XP_011514053.1:p.Arg590Thr
XM_011515752.1:c.1769G>C	XP_011514054.1:p.Arg590Thr
XM_011515753.1:c.1436G>C	XP_011514055.1:p.Arg479Thr
XM_011515754.1:c.1436G>C	XP_011514056.1:p.Arg479Thr
NM_000492.4:c.1679G>C MANE Select	NP_000483.3:p.Arg560Thr