Canonical Allele Identifier: CA368982552

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304823G>C (hg19) ; chr7:g.117664769G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664769G>C , CM000669.2:g.117664769G>C	GRCh38
NC_000007.13:g.117304823G>C , CM000669.1:g.117304823G>C	GRCh37
NC_000007.12:g.117092059G>C	NCBI36
NG_016465.4:g.203986G>C , LRG_663:g.203986G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*254G>C	ENSP00000497673.2:n.*254G>C
ENST00000647978.2:c.*3759G>C	ENSP00000497658.1:n.*3759G>C
ENST00000649781.2:c.3862G>C	ENSP00000497203.1:p.Gly1288Arg
ENST00000685018.2:c.*258G>C	ENSP00000510194.2:n.*258G>C
ENST00000687278.2:c.*698G>C	ENSP00000509593.2:n.*698G>C
ENST00000699585.1:c.*254G>C	ENSP00000514456.1:n.*254G>C
ENST00000699598.1:c.4045G>C	ENSP00000514467.1:p.Gly1349Arg
ENST00000699599.1:c.*258G>C	ENSP00000514468.1:n.*258G>C
ENST00000699600.1:c.*706G>C	ENSP00000514469.1:n.*706G>C
ENST00000699601.1:c.*2420G>C	ENSP00000514470.1:n.*2420G>C
ENST00000699602.1:c.4039G>C	ENSP00000514471.1:p.Gly1347Arg
ENST00000699604.1:c.*3869G>C	ENSP00000514472.1:n.*3869G>C
ENST00000699605.1:c.3619G>C	ENSP00000514473.1:p.Gly1207Arg
ENST00000699606.1:n.2213G>C
ENST00000685018.1:c.909G>C	ENSP00000510194.1:n.909G>C
ENST00000687278.1:c.1832G>C	ENSP00000509593.1:n.1832G>C
ENST00000689011.1:c.627G>C
ENST00000003084.11:c.4045G>C MANE Select	ENSP00000003084.6:p.Gly1349Arg
ENST00000647720.1:c.1495G>C
ENST00000649781.1:c.3862G>C	ENSP00000497203.1:p.Gly1288Arg
ENST00000003084.10:c.4045G>C	ENSP00000003084.6:p.Gly1349Arg
ENST00000426809.5:c.3955G>C	ENSP00000389119.1:p.Gly1319Arg
ENST00000600166.1:c.171G>C
NM_000492.3:c.4045G>C , LRG_663t1:c.4045G>C	NP_000483.3:p.Gly1349Arg
XM_011515751.1:c.4135G>C	XP_011514053.1:p.Gly1379Arg
XM_011515752.1:c.4135G>C	XP_011514054.1:p.Gly1379Arg
XM_011515753.1:c.3802G>C	XP_011514055.1:p.Gly1268Arg
XM_011515754.1:c.3802G>C	XP_011514056.1:p.Gly1268Arg
NM_000492.4:c.4045G>C MANE Select	NP_000483.3:p.Gly1349Arg