Canonical Allele Identifier: CA457230254

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304747G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664693G>C , CM000669.2:g.117664693G>C	GRCh38
NC_000007.13:g.117304747G>C , CM000669.1:g.117304747G>C	GRCh37
NC_000007.12:g.117091983G>C	NCBI36
NG_016465.4:g.203910G>C , LRG_663:g.203910G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*178G>C	ENSP00000497673.2:n.*178G>C
ENST00000647978.2:c.*3683G>C	ENSP00000497658.1:n.*3683G>C
ENST00000649781.2:c.3786G>C	ENSP00000497203.1:p.Gly1262=
ENST00000685018.2:c.*182G>C	ENSP00000510194.2:n.*182G>C
ENST00000687278.2:c.*622G>C	ENSP00000509593.2:n.*622G>C
ENST00000699585.1:c.*178G>C	ENSP00000514456.1:n.*178G>C
ENST00000699598.1:c.3969G>C	ENSP00000514467.1:p.Gly1323=
ENST00000699599.1:c.*182G>C	ENSP00000514468.1:n.*182G>C
ENST00000699600.1:c.*630G>C	ENSP00000514469.1:n.*630G>C
ENST00000699601.1:c.*2344G>C	ENSP00000514470.1:n.*2344G>C
ENST00000699602.1:c.3963G>C	ENSP00000514471.1:p.Gly1321=
ENST00000699604.1:c.*3793G>C	ENSP00000514472.1:n.*3793G>C
ENST00000699605.1:c.3543G>C	ENSP00000514473.1:p.Gly1181=
ENST00000699606.1:n.2137G>C
ENST00000685018.1:c.833G>C	ENSP00000510194.1:n.833G>C
ENST00000687278.1:c.1756G>C	ENSP00000509593.1:n.1756G>C
ENST00000689011.1:c.551G>C
ENST00000003084.11:c.3969G>C MANE Select	ENSP00000003084.6:p.Gly1323=
ENST00000647720.1:c.1419G>C
ENST00000649781.1:c.3786G>C	ENSP00000497203.1:p.Gly1262=
ENST00000003084.10:c.3969G>C	ENSP00000003084.6:p.Gly1323=
ENST00000426809.5:c.3879G>C	ENSP00000389119.1:p.Gly1293=
ENST00000600166.1:c.95G>C
NM_000492.3:c.3969G>C , LRG_663t1:c.3969G>C	NP_000483.3:p.Gly1323=
XM_011515751.1:c.4059G>C	XP_011514053.1:p.Gly1353=
XM_011515752.1:c.4059G>C	XP_011514054.1:p.Gly1353=
XM_011515753.1:c.3726G>C	XP_011514055.1:p.Gly1242=
XM_011515754.1:c.3726G>C	XP_011514056.1:p.Gly1242=
NM_000492.4:c.3969G>C MANE Select	NP_000483.3:p.Gly1323=