Canonical Allele Identifier: CA457228204

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282569A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642515A>C , CM000669.2:g.117642515A>C	GRCh38
NC_000007.13:g.117282569A>C , CM000669.1:g.117282569A>C	GRCh37
NC_000007.12:g.117069805A>C	NCBI36
NG_016465.4:g.181732A>C , LRG_663:g.181732A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*4A>C	ENSP00000497673.2:n.*4A>C
ENST00000647978.2:c.*3509A>C	ENSP00000497658.1:n.*3509A>C
ENST00000649781.2:c.3612A>C	ENSP00000497203.1:p.Gly1204=
ENST00000685018.2:c.3795A>C	ENSP00000510194.2:p.Gly1265=
ENST00000687278.2:c.*448A>C	ENSP00000509593.2:n.*448A>C
ENST00000699585.1:c.*4A>C	ENSP00000514456.1:n.*4A>C
ENST00000699598.1:c.3795A>C	ENSP00000514467.1:p.Gly1265=
ENST00000699599.1:c.3795A>C	ENSP00000514468.1:p.Gly1265=
ENST00000699600.1:c.*456A>C	ENSP00000514469.1:n.*456A>C
ENST00000699601.1:c.*2170A>C	ENSP00000514470.1:n.*2170A>C
ENST00000699602.1:c.3789A>C	ENSP00000514471.1:p.Gly1263=
ENST00000699604.1:c.*3619A>C	ENSP00000514472.1:n.*3619A>C
ENST00000699605.1:c.3369A>C	ENSP00000514473.1:p.Gly1123=
ENST00000685018.1:c.543A>C	ENSP00000510194.1:p.Gly181=
ENST00000687278.1:c.1582A>C	ENSP00000509593.1:n.1582A>C
ENST00000689011.1:c.377A>C
ENST00000003084.11:c.3795A>C MANE Select	ENSP00000003084.6:p.Gly1265=
ENST00000647720.1:c.1245A>C
ENST00000649781.1:c.3612A>C	ENSP00000497203.1:p.Gly1204=
ENST00000003084.10:c.3795A>C	ENSP00000003084.6:p.Gly1265=
ENST00000426809.5:c.3705A>C	ENSP00000389119.1:p.Gly1235=
NM_000492.3:c.3795A>C , LRG_663t1:c.3795A>C	NP_000483.3:p.Gly1265=
XM_011515751.1:c.3885A>C	XP_011514053.1:p.Gly1295=
XM_011515752.1:c.3885A>C	XP_011514054.1:p.Gly1295=
XM_011515753.1:c.3552A>C	XP_011514055.1:p.Gly1184=
XM_011515754.1:c.3552A>C	XP_011514056.1:p.Gly1184=
NM_000492.4:c.3795A>C MANE Select	NP_000483.3:p.Gly1265=