Canonical Allele Identifier: CA368982795

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2453643
• ClinVar RCV Id: RCV003187778
• MyVariant Identifiers: chr7:g.117304871A>G (hg19) ; chr7:g.117664817A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664817A>G , CM000669.2:g.117664817A>G	GRCh38
NC_000007.13:g.117304871A>G , CM000669.1:g.117304871A>G	GRCh37
NC_000007.12:g.117092107A>G	NCBI36
NG_016465.4:g.204034A>G , LRG_663:g.204034A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*302A>G	ENSP00000497673.2:n.*302A>G
ENST00000647978.2:c.*3807A>G	ENSP00000497658.1:n.*3807A>G
ENST00000649781.2:c.3910A>G	ENSP00000497203.1:p.Lys1304Glu
ENST00000685018.2:c.*306A>G	ENSP00000510194.2:n.*306A>G
ENST00000687278.2:c.*746A>G	ENSP00000509593.2:n.*746A>G
ENST00000699585.1:c.*302A>G	ENSP00000514456.1:n.*302A>G
ENST00000699598.1:c.4093A>G	ENSP00000514467.1:p.Lys1365Glu
ENST00000699599.1:c.*306A>G	ENSP00000514468.1:n.*306A>G
ENST00000699600.1:c.*754A>G	ENSP00000514469.1:n.*754A>G
ENST00000699601.1:c.*2468A>G	ENSP00000514470.1:n.*2468A>G
ENST00000699602.1:c.4087A>G	ENSP00000514471.1:p.Lys1363Glu
ENST00000699604.1:c.*3917A>G	ENSP00000514472.1:n.*3917A>G
ENST00000699605.1:c.3667A>G	ENSP00000514473.1:p.Lys1223Glu
ENST00000699606.1:n.2261A>G
ENST00000685018.1:c.957A>G	ENSP00000510194.1:n.957A>G
ENST00000687278.1:c.1880A>G	ENSP00000509593.1:n.1880A>G
ENST00000689011.1:c.675A>G
ENST00000003084.11:c.4093A>G MANE Select	ENSP00000003084.6:p.Lys1365Glu
ENST00000647720.1:c.1543A>G
ENST00000649781.1:c.3910A>G	ENSP00000497203.1:p.Lys1304Glu
ENST00000003084.10:c.4093A>G	ENSP00000003084.6:p.Lys1365Glu
ENST00000426809.5:c.4003A>G	ENSP00000389119.1:p.Lys1335Glu
ENST00000600166.1:c.219A>G
NM_000492.3:c.4093A>G , LRG_663t1:c.4093A>G	NP_000483.3:p.Lys1365Glu
XM_011515751.1:c.4183A>G	XP_011514053.1:p.Lys1395Glu
XM_011515752.1:c.4183A>G	XP_011514054.1:p.Lys1395Glu
XM_011515753.1:c.3850A>G	XP_011514055.1:p.Lys1284Glu
XM_011515754.1:c.3850A>G	XP_011514056.1:p.Lys1284Glu
NM_000492.4:c.4093A>G MANE Select	NP_000483.3:p.Lys1365Glu