Canonical Allele Identifier: CA368980900

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2453621
• ClinVar RCV Id: RCV003187756
• dbSNP Id: rs397508363
• gnomAD v2: 7-117232518-G-C
• gnomAD v4: 7-117592464-G-C
• MyVariant Identifiers: chr7:g.117232518G>C (hg19) ; chr7:g.117592464G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592464G>C , CM000669.2:g.117592464G>C	GRCh38
NC_000007.13:g.117232518G>C , CM000669.1:g.117232518G>C	GRCh37
NC_000007.12:g.117019754G>C	NCBI36
NG_016465.4:g.131681G>C , LRG_663:g.131681G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2297G>C	ENSP00000497673.2:p.Arg766Thr
ENST00000647978.2:c.*2011G>C	ENSP00000497658.1:n.*2011G>C
ENST00000649781.2:c.2114G>C	ENSP00000497203.1:p.Arg705Thr
ENST00000685018.2:c.2297G>C	ENSP00000510194.2:p.Arg766Thr
ENST00000687278.2:c.2297G>C	ENSP00000509593.2:p.Arg766Thr
ENST00000699585.1:c.2297G>C	ENSP00000514456.1:p.Arg766Thr
ENST00000699598.1:c.2297G>C	ENSP00000514467.1:p.Arg766Thr
ENST00000699599.1:c.2297G>C	ENSP00000514468.1:p.Arg766Thr
ENST00000699600.1:c.2297G>C	ENSP00000514469.1:p.Arg766Thr
ENST00000699601.1:c.*597G>C	ENSP00000514470.1:n.*597G>C
ENST00000699602.1:c.2297G>C	ENSP00000514471.1:p.Arg766Thr
ENST00000699604.1:c.*2121G>C	ENSP00000514472.1:n.*2121G>C
ENST00000699605.1:c.1871G>C	ENSP00000514473.1:p.Arg624Thr
ENST00000003084.11:c.2297G>C MANE Select	ENSP00000003084.6:p.Arg766Thr
ENST00000647978.1:c.*2011G>C	ENSP00000497658.1:n.*2011G>C
ENST00000648260.1:c.1402-10362G>C	ENSP00000497957.1:n.1402-10362G>C
ENST00000649406.1:c.2114G>C	ENSP00000497965.1:p.Arg705Thr
ENST00000649781.1:c.2114G>C	ENSP00000497203.1:p.Arg705Thr
ENST00000003084.10:c.2297G>C	ENSP00000003084.6:p.Arg766Thr
ENST00000426809.5:c.2207G>C	ENSP00000389119.1:p.Arg736Thr
NM_000492.3:c.2297G>C , LRG_663t1:c.2297G>C	NP_000483.3:p.Arg766Thr
XM_011515751.1:c.2387G>C	XP_011514053.1:p.Arg796Thr
XM_011515752.1:c.2387G>C	XP_011514054.1:p.Arg796Thr
XM_011515753.1:c.2054G>C	XP_011514055.1:p.Arg685Thr
XM_011515754.1:c.2054G>C	XP_011514056.1:p.Arg685Thr
NM_000492.4:c.2297G>C MANE Select	NP_000483.3:p.Arg766Thr