Canonical Allele Identifier: CA368978130

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117292924G>C (hg19) ; chr7:g.117652870G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652870G>C , CM000669.2:g.117652870G>C	GRCh38
NC_000007.13:g.117292924G>C , CM000669.1:g.117292924G>C	GRCh37
NC_000007.12:g.117080160G>C	NCBI36
NG_016465.4:g.192087G>C , LRG_663:g.192087G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*111G>C	ENSP00000497673.2:n.*111G>C
ENST00000647978.2:c.*3616G>C	ENSP00000497658.1:n.*3616G>C
ENST00000649781.2:c.3719G>C	ENSP00000497203.1:p.Arg1240Thr
ENST00000685018.2:c.*115G>C	ENSP00000510194.2:n.*115G>C
ENST00000687278.2:c.*555G>C	ENSP00000509593.2:n.*555G>C
ENST00000699585.1:c.*111G>C	ENSP00000514456.1:n.*111G>C
ENST00000699598.1:c.3902G>C	ENSP00000514467.1:p.Arg1301Thr
ENST00000699599.1:c.*115G>C	ENSP00000514468.1:n.*115G>C
ENST00000699600.1:c.*563G>C	ENSP00000514469.1:n.*563G>C
ENST00000699601.1:c.*2277G>C	ENSP00000514470.1:n.*2277G>C
ENST00000699602.1:c.3896G>C	ENSP00000514471.1:p.Arg1299Thr
ENST00000699604.1:c.*3726G>C	ENSP00000514472.1:n.*3726G>C
ENST00000699605.1:c.3476G>C	ENSP00000514473.1:p.Arg1159Thr
ENST00000699606.1:n.2070G>C
ENST00000685018.1:c.766G>C	ENSP00000510194.1:n.766G>C
ENST00000687278.1:c.1689G>C	ENSP00000509593.1:n.1689G>C
ENST00000689011.1:c.484G>C
ENST00000003084.11:c.3902G>C MANE Select	ENSP00000003084.6:p.Arg1301Thr
ENST00000647720.1:c.1352G>C
ENST00000649781.1:c.3719G>C	ENSP00000497203.1:p.Arg1240Thr
ENST00000003084.10:c.3902G>C	ENSP00000003084.6:p.Arg1301Thr
ENST00000426809.5:c.3812G>C	ENSP00000389119.1:p.Arg1271Thr
ENST00000600166.1:c.28G>C
NM_000492.3:c.3902G>C , LRG_663t1:c.3902G>C	NP_000483.3:p.Arg1301Thr
XM_011515751.1:c.3992G>C	XP_011514053.1:p.Arg1331Thr
XM_011515752.1:c.3992G>C	XP_011514054.1:p.Arg1331Thr
XM_011515753.1:c.3659G>C	XP_011514055.1:p.Arg1220Thr
XM_011515754.1:c.3659G>C	XP_011514056.1:p.Arg1220Thr
NM_000492.4:c.3902G>C MANE Select	NP_000483.3:p.Arg1301Thr