Canonical Allele Identifier: CA457230289

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304795T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664741T>C , CM000669.2:g.117664741T>C	GRCh38
NC_000007.13:g.117304795T>C , CM000669.1:g.117304795T>C	GRCh37
NC_000007.12:g.117092031T>C	NCBI36
NG_016465.4:g.203958T>C , LRG_663:g.203958T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*226T>C	ENSP00000497673.2:n.*226T>C
ENST00000647978.2:c.*3731T>C	ENSP00000497658.1:n.*3731T>C
ENST00000649781.2:c.3834T>C	ENSP00000497203.1:p.Leu1278=
ENST00000685018.2:c.*230T>C	ENSP00000510194.2:n.*230T>C
ENST00000687278.2:c.*670T>C	ENSP00000509593.2:n.*670T>C
ENST00000699585.1:c.*226T>C	ENSP00000514456.1:n.*226T>C
ENST00000699598.1:c.4017T>C	ENSP00000514467.1:p.Leu1339=
ENST00000699599.1:c.*230T>C	ENSP00000514468.1:n.*230T>C
ENST00000699600.1:c.*678T>C	ENSP00000514469.1:n.*678T>C
ENST00000699601.1:c.*2392T>C	ENSP00000514470.1:n.*2392T>C
ENST00000699602.1:c.4011T>C	ENSP00000514471.1:p.Leu1337=
ENST00000699604.1:c.*3841T>C	ENSP00000514472.1:n.*3841T>C
ENST00000699605.1:c.3591T>C	ENSP00000514473.1:p.Leu1197=
ENST00000699606.1:n.2185T>C
ENST00000685018.1:c.881T>C	ENSP00000510194.1:n.881T>C
ENST00000687278.1:c.1804T>C	ENSP00000509593.1:n.1804T>C
ENST00000689011.1:c.599T>C
ENST00000003084.11:c.4017T>C MANE Select	ENSP00000003084.6:p.Leu1339=
ENST00000647720.1:c.1467T>C
ENST00000649781.1:c.3834T>C	ENSP00000497203.1:p.Leu1278=
ENST00000003084.10:c.4017T>C	ENSP00000003084.6:p.Leu1339=
ENST00000426809.5:c.3927T>C	ENSP00000389119.1:p.Leu1309=
ENST00000600166.1:c.143T>C
NM_000492.3:c.4017T>C , LRG_663t1:c.4017T>C	NP_000483.3:p.Leu1339=
XM_011515751.1:c.4107T>C	XP_011514053.1:p.Leu1369=
XM_011515752.1:c.4107T>C	XP_011514054.1:p.Leu1369=
XM_011515753.1:c.3774T>C	XP_011514055.1:p.Leu1258=
XM_011515754.1:c.3774T>C	XP_011514056.1:p.Leu1258=
NM_000492.4:c.4017T>C MANE Select	NP_000483.3:p.Leu1339=