Canonical Allele Identifier: CA457228284

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282587T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642533T>C , CM000669.2:g.117642533T>C	GRCh38
NC_000007.13:g.117282587T>C , CM000669.1:g.117282587T>C	GRCh37
NC_000007.12:g.117069823T>C	NCBI36
NG_016465.4:g.181750T>C , LRG_663:g.181750T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*22T>C	ENSP00000497673.2:n.*22T>C
ENST00000647978.2:c.*3527T>C	ENSP00000497658.1:n.*3527T>C
ENST00000649781.2:c.3630T>C	ENSP00000497203.1:p.Gly1210=
ENST00000685018.2:c.3813T>C	ENSP00000510194.2:p.Gly1271=
ENST00000687278.2:c.*466T>C	ENSP00000509593.2:n.*466T>C
ENST00000699585.1:c.*22T>C	ENSP00000514456.1:n.*22T>C
ENST00000699598.1:c.3813T>C	ENSP00000514467.1:p.Gly1271=
ENST00000699599.1:c.3813T>C	ENSP00000514468.1:p.Gly1271=
ENST00000699600.1:c.*474T>C	ENSP00000514469.1:n.*474T>C
ENST00000699601.1:c.*2188T>C	ENSP00000514470.1:n.*2188T>C
ENST00000699602.1:c.3807T>C	ENSP00000514471.1:p.Gly1269=
ENST00000699604.1:c.*3637T>C	ENSP00000514472.1:n.*3637T>C
ENST00000699605.1:c.3387T>C	ENSP00000514473.1:p.Gly1129=
ENST00000685018.1:c.561T>C	ENSP00000510194.1:p.Gly187=
ENST00000687278.1:c.1600T>C	ENSP00000509593.1:n.1600T>C
ENST00000689011.1:c.395T>C
ENST00000003084.11:c.3813T>C MANE Select	ENSP00000003084.6:p.Gly1271=
ENST00000647720.1:c.1263T>C
ENST00000649781.1:c.3630T>C	ENSP00000497203.1:p.Gly1210=
ENST00000003084.10:c.3813T>C	ENSP00000003084.6:p.Gly1271=
ENST00000426809.5:c.3723T>C	ENSP00000389119.1:p.Gly1241=
NM_000492.3:c.3813T>C , LRG_663t1:c.3813T>C	NP_000483.3:p.Gly1271=
XM_011515751.1:c.3903T>C	XP_011514053.1:p.Gly1301=
XM_011515752.1:c.3903T>C	XP_011514054.1:p.Gly1301=
XM_011515753.1:c.3570T>C	XP_011514055.1:p.Gly1190=
XM_011515754.1:c.3570T>C	XP_011514056.1:p.Gly1190=
NM_000492.4:c.3813T>C MANE Select	NP_000483.3:p.Gly1271=