Canonical Allele Identifier: CA368983655

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305577G>C (hg19) ; chr7:g.117665523G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665523G>C , CM000669.2:g.117665523G>C	GRCh38
NC_000007.13:g.117305577G>C , CM000669.1:g.117305577G>C	GRCh37
NC_000007.12:g.117092813G>C	NCBI36
NG_016465.4:g.204740G>C , LRG_663:g.204740G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*410G>C	ENSP00000497673.2:n.*410G>C
ENST00000647978.2:c.*3915G>C	ENSP00000497658.1:n.*3915G>C
ENST00000649781.2:c.4018G>C	ENSP00000497203.1:p.Glu1340Gln
ENST00000685018.2:c.*414G>C	ENSP00000510194.2:n.*414G>C
ENST00000687278.2:c.*854G>C	ENSP00000509593.2:n.*854G>C
ENST00000699585.1:c.*410G>C	ENSP00000514456.1:n.*410G>C
ENST00000699598.1:c.4201G>C	ENSP00000514467.1:p.Glu1401Gln
ENST00000699599.1:c.*414G>C	ENSP00000514468.1:n.*414G>C
ENST00000699600.1:c.*862G>C	ENSP00000514469.1:n.*862G>C
ENST00000699601.1:c.*2576G>C	ENSP00000514470.1:n.*2576G>C
ENST00000699602.1:c.4195G>C	ENSP00000514471.1:p.Glu1399Gln
ENST00000699604.1:c.*4025G>C	ENSP00000514472.1:n.*4025G>C
ENST00000699605.1:c.3775G>C	ENSP00000514473.1:p.Glu1259Gln
ENST00000699606.1:n.2369G>C
ENST00000685018.1:c.1065G>C	ENSP00000510194.1:n.1065G>C
ENST00000687278.1:c.1988G>C	ENSP00000509593.1:n.1988G>C
ENST00000689011.1:c.783G>C
ENST00000003084.11:c.4201G>C MANE Select	ENSP00000003084.6:p.Glu1401Gln
ENST00000647720.1:c.1651G>C
ENST00000649781.1:c.4018G>C	ENSP00000497203.1:p.Glu1340Gln
ENST00000003084.10:c.4201G>C	ENSP00000003084.6:p.Glu1401Gln
ENST00000426809.5:c.4111G>C	ENSP00000389119.1:p.Glu1371Gln
ENST00000600166.1:c.327G>C
NM_000492.3:c.4201G>C , LRG_663t1:c.4201G>C	NP_000483.3:p.Glu1401Gln
XM_011515751.1:c.4291G>C	XP_011514053.1:p.Glu1431Gln
XM_011515752.1:c.4291G>C	XP_011514054.1:p.Glu1431Gln
XM_011515753.1:c.3958G>C	XP_011514055.1:p.Glu1320Gln
XM_011515754.1:c.3958G>C	XP_011514056.1:p.Glu1320Gln
NM_000492.4:c.4201G>C MANE Select	NP_000483.3:p.Glu1401Gln