Canonical Allele Identifier: CA457228367

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282608T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642554T>C , CM000669.2:g.117642554T>C	GRCh38
NC_000007.13:g.117282608T>C , CM000669.1:g.117282608T>C	GRCh37
NC_000007.12:g.117069844T>C	NCBI36
NG_016465.4:g.181771T>C , LRG_663:g.181771T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*43T>C	ENSP00000497673.2:n.*43T>C
ENST00000647978.2:c.*3548T>C	ENSP00000497658.1:n.*3548T>C
ENST00000649781.2:c.3651T>C	ENSP00000497203.1:p.Thr1217=
ENST00000685018.2:c.3834T>C	ENSP00000510194.2:p.Thr1278=
ENST00000687278.2:c.*487T>C	ENSP00000509593.2:n.*487T>C
ENST00000699585.1:c.*43T>C	ENSP00000514456.1:n.*43T>C
ENST00000699598.1:c.3834T>C	ENSP00000514467.1:p.Thr1278=
ENST00000699599.1:c.3834T>C	ENSP00000514468.1:p.Thr1278=
ENST00000699600.1:c.*495T>C	ENSP00000514469.1:n.*495T>C
ENST00000699601.1:c.*2209T>C	ENSP00000514470.1:n.*2209T>C
ENST00000699602.1:c.3828T>C	ENSP00000514471.1:p.Thr1276=
ENST00000699604.1:c.*3658T>C	ENSP00000514472.1:n.*3658T>C
ENST00000699605.1:c.3408T>C	ENSP00000514473.1:p.Thr1136=
ENST00000685018.1:c.582T>C	ENSP00000510194.1:p.Thr194=
ENST00000687278.1:c.1621T>C	ENSP00000509593.1:n.1621T>C
ENST00000689011.1:c.416T>C
ENST00000003084.11:c.3834T>C MANE Select	ENSP00000003084.6:p.Thr1278=
ENST00000647720.1:c.1284T>C
ENST00000649781.1:c.3651T>C	ENSP00000497203.1:p.Thr1217=
ENST00000003084.10:c.3834T>C	ENSP00000003084.6:p.Thr1278=
ENST00000426809.5:c.3744T>C	ENSP00000389119.1:p.Thr1248=
NM_000492.3:c.3834T>C , LRG_663t1:c.3834T>C	NP_000483.3:p.Thr1278=
XM_011515751.1:c.3924T>C	XP_011514053.1:p.Thr1308=
XM_011515752.1:c.3924T>C	XP_011514054.1:p.Thr1308=
XM_011515753.1:c.3591T>C	XP_011514055.1:p.Thr1197=
XM_011515754.1:c.3591T>C	XP_011514056.1:p.Thr1197=
NM_000492.4:c.3834T>C MANE Select	NP_000483.3:p.Thr1278=