Canonical Allele Identifier: CA368983464

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305544C>G (hg19) ; chr7:g.117665490C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665490C>G , CM000669.2:g.117665490C>G	GRCh38
NC_000007.13:g.117305544C>G , CM000669.1:g.117305544C>G	GRCh37
NC_000007.12:g.117092780C>G	NCBI36
NG_016465.4:g.204707C>G , LRG_663:g.204707C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*377C>G	ENSP00000497673.2:n.*377C>G
ENST00000647978.2:c.*3882C>G	ENSP00000497658.1:n.*3882C>G
ENST00000649781.2:c.3985C>G	ENSP00000497203.1:p.Gln1329Glu
ENST00000685018.2:c.*381C>G	ENSP00000510194.2:n.*381C>G
ENST00000687278.2:c.*821C>G	ENSP00000509593.2:n.*821C>G
ENST00000699585.1:c.*377C>G	ENSP00000514456.1:n.*377C>G
ENST00000699598.1:c.4168C>G	ENSP00000514467.1:p.Gln1390Glu
ENST00000699599.1:c.*381C>G	ENSP00000514468.1:n.*381C>G
ENST00000699600.1:c.*829C>G	ENSP00000514469.1:n.*829C>G
ENST00000699601.1:c.*2543C>G	ENSP00000514470.1:n.*2543C>G
ENST00000699602.1:c.4162C>G	ENSP00000514471.1:p.Gln1388Glu
ENST00000699604.1:c.*3992C>G	ENSP00000514472.1:n.*3992C>G
ENST00000699605.1:c.3742C>G	ENSP00000514473.1:p.Gln1248Glu
ENST00000699606.1:n.2336C>G
ENST00000685018.1:c.1032C>G	ENSP00000510194.1:n.1032C>G
ENST00000687278.1:c.1955C>G	ENSP00000509593.1:n.1955C>G
ENST00000689011.1:c.750C>G
ENST00000003084.11:c.4168C>G MANE Select	ENSP00000003084.6:p.Gln1390Glu
ENST00000647720.1:c.1618C>G
ENST00000649781.1:c.3985C>G	ENSP00000497203.1:p.Gln1329Glu
ENST00000003084.10:c.4168C>G	ENSP00000003084.6:p.Gln1390Glu
ENST00000426809.5:c.4078C>G	ENSP00000389119.1:p.Gln1360Glu
ENST00000600166.1:c.294C>G
NM_000492.3:c.4168C>G , LRG_663t1:c.4168C>G	NP_000483.3:p.Gln1390Glu
XM_011515751.1:c.4258C>G	XP_011514053.1:p.Gln1420Glu
XM_011515752.1:c.4258C>G	XP_011514054.1:p.Gln1420Glu
XM_011515753.1:c.3925C>G	XP_011514055.1:p.Gln1309Glu
XM_011515754.1:c.3925C>G	XP_011514056.1:p.Gln1309Glu
NM_000492.4:c.4168C>G MANE Select	NP_000483.3:p.Gln1390Glu