Canonical Allele Identifier: CA368986898

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117243726G>C (hg19) ; chr7:g.117603672G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603672G>C , CM000669.2:g.117603672G>C	GRCh38
NC_000007.13:g.117243726G>C , CM000669.1:g.117243726G>C	GRCh37
NC_000007.12:g.117030962G>C	NCBI36
NG_016465.4:g.142889G>C , LRG_663:g.142889G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2798G>C	ENSP00000497673.2:p.Arg933Thr
ENST00000647978.2:c.*2512G>C	ENSP00000497658.1:n.*2512G>C
ENST00000649781.2:c.2615G>C	ENSP00000497203.1:p.Arg872Thr
ENST00000685018.2:c.2798G>C	ENSP00000510194.2:p.Arg933Thr
ENST00000687278.2:c.2798G>C	ENSP00000509593.2:p.Arg933Thr
ENST00000699585.1:c.2798G>C	ENSP00000514456.1:p.Arg933Thr
ENST00000699598.1:c.2798G>C	ENSP00000514467.1:p.Arg933Thr
ENST00000699599.1:c.2798G>C	ENSP00000514468.1:p.Arg933Thr
ENST00000699600.1:c.2798G>C	ENSP00000514469.1:p.Arg933Thr
ENST00000699601.1:c.*1098G>C	ENSP00000514470.1:n.*1098G>C
ENST00000699602.1:c.2798G>C	ENSP00000514471.1:p.Arg933Thr
ENST00000699604.1:c.*2622G>C	ENSP00000514472.1:n.*2622G>C
ENST00000699605.1:c.2372G>C	ENSP00000514473.1:p.Arg791Thr
ENST00000687278.1:c.389G>C	ENSP00000509593.1:p.Arg130Thr
ENST00000003084.11:c.2798G>C MANE Select	ENSP00000003084.6:p.Arg933Thr
ENST00000647720.1:c.448G>C
ENST00000648260.1:c.1580G>C	ENSP00000497957.1:p.Arg527Thr
ENST00000649406.1:c.2615G>C	ENSP00000497965.1:p.Arg872Thr
ENST00000649781.1:c.2615G>C	ENSP00000497203.1:p.Arg872Thr
ENST00000003084.10:c.2798G>C	ENSP00000003084.6:p.Arg933Thr
ENST00000426809.5:c.2708G>C	ENSP00000389119.1:p.Arg903Thr
NM_000492.3:c.2798G>C , LRG_663t1:c.2798G>C	NP_000483.3:p.Arg933Thr
XM_011515751.1:c.2888G>C	XP_011514053.1:p.Arg963Thr
XM_011515752.1:c.2888G>C	XP_011514054.1:p.Arg963Thr
XM_011515753.1:c.2555G>C	XP_011514055.1:p.Arg852Thr
XM_011515754.1:c.2555G>C	XP_011514056.1:p.Arg852Thr
NM_000492.4:c.2798G>C MANE Select	NP_000483.3:p.Arg933Thr