Canonical Allele Identifier: CA457230260

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1574054
• ClinVar RCV Id: RCV002080421
• dbSNP Id: rs1231511097
• MyVariant Identifiers: chr7:g.117304751A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664697A>C , CM000669.2:g.117664697A>C	GRCh38
NC_000007.13:g.117304751A>C , CM000669.1:g.117304751A>C	GRCh37
NC_000007.12:g.117091987A>C	NCBI36
NG_016465.4:g.203914A>C , LRG_663:g.203914A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*182A>C	ENSP00000497673.2:n.*182A>C
ENST00000647978.2:c.*3687A>C	ENSP00000497658.1:n.*3687A>C
ENST00000649781.2:c.3790A>C	ENSP00000497203.1:p.Arg1264=
ENST00000685018.2:c.*186A>C	ENSP00000510194.2:n.*186A>C
ENST00000687278.2:c.*626A>C	ENSP00000509593.2:n.*626A>C
ENST00000699585.1:c.*182A>C	ENSP00000514456.1:n.*182A>C
ENST00000699598.1:c.3973A>C	ENSP00000514467.1:p.Arg1325=
ENST00000699599.1:c.*186A>C	ENSP00000514468.1:n.*186A>C
ENST00000699600.1:c.*634A>C	ENSP00000514469.1:n.*634A>C
ENST00000699601.1:c.*2348A>C	ENSP00000514470.1:n.*2348A>C
ENST00000699602.1:c.3967A>C	ENSP00000514471.1:p.Arg1323=
ENST00000699604.1:c.*3797A>C	ENSP00000514472.1:n.*3797A>C
ENST00000699605.1:c.3547A>C	ENSP00000514473.1:p.Arg1183=
ENST00000699606.1:n.2141A>C
ENST00000685018.1:c.837A>C	ENSP00000510194.1:n.837A>C
ENST00000687278.1:c.1760A>C	ENSP00000509593.1:n.1760A>C
ENST00000689011.1:c.555A>C
ENST00000003084.11:c.3973A>C MANE Select	ENSP00000003084.6:p.Arg1325=
ENST00000647720.1:c.1423A>C
ENST00000649781.1:c.3790A>C	ENSP00000497203.1:p.Arg1264=
ENST00000003084.10:c.3973A>C	ENSP00000003084.6:p.Arg1325=
ENST00000426809.5:c.3883A>C	ENSP00000389119.1:p.Arg1295=
ENST00000600166.1:c.99A>C
NM_000492.3:c.3973A>C , LRG_663t1:c.3973A>C	NP_000483.3:p.Arg1325=
XM_011515751.1:c.4063A>C	XP_011514053.1:p.Arg1355=
XM_011515752.1:c.4063A>C	XP_011514054.1:p.Arg1355=
XM_011515753.1:c.3730A>C	XP_011514055.1:p.Arg1244=
XM_011515754.1:c.3730A>C	XP_011514056.1:p.Arg1244=
NM_000492.4:c.3973A>C MANE Select	NP_000483.3:p.Arg1325=