Canonical Allele Identifier: CA368983462

Gene: CFTR

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*377C>A	ENSP00000497673.2:n.*377C>A
ENST00000647978.2:c.*3882C>A	ENSP00000497658.1:n.*3882C>A
ENST00000649781.2:c.3985C>A	ENSP00000497203.1:p.Gln1329Lys
ENST00000685018.2:c.*381C>A	ENSP00000510194.2:n.*381C>A
ENST00000687278.2:c.*821C>A	ENSP00000509593.2:n.*821C>A
ENST00000699585.1:c.*377C>A	ENSP00000514456.1:n.*377C>A
ENST00000699598.1:c.4168C>A	ENSP00000514467.1:p.Gln1390Lys
ENST00000699599.1:c.*381C>A	ENSP00000514468.1:n.*381C>A
ENST00000699600.1:c.*829C>A	ENSP00000514469.1:n.*829C>A
ENST00000699601.1:c.*2543C>A	ENSP00000514470.1:n.*2543C>A
ENST00000699602.1:c.4162C>A	ENSP00000514471.1:p.Gln1388Lys
ENST00000699604.1:c.*3992C>A	ENSP00000514472.1:n.*3992C>A
ENST00000699605.1:c.3742C>A	ENSP00000514473.1:p.Gln1248Lys
ENST00000699606.1:n.2336C>A
ENST00000685018.1:c.1032C>A	ENSP00000510194.1:n.1032C>A
ENST00000687278.1:c.1955C>A	ENSP00000509593.1:n.1955C>A
ENST00000689011.1:c.750C>A
ENST00000003084.11:c.4168C>A MANE Select	ENSP00000003084.6:p.Gln1390Lys
ENST00000647720.1:c.1618C>A
ENST00000649781.1:c.3985C>A	ENSP00000497203.1:p.Gln1329Lys
ENST00000003084.10:c.4168C>A	ENSP00000003084.6:p.Gln1390Lys
ENST00000426809.5:c.4078C>A	ENSP00000389119.1:p.Gln1360Lys
ENST00000600166.1:c.294C>A
NM_000492.3:c.4168C>A , LRG_663t1:c.4168C>A	NP_000483.3:p.Gln1390Lys
XM_011515751.1:c.4258C>A	XP_011514053.1:p.Gln1420Lys
XM_011515752.1:c.4258C>A	XP_011514054.1:p.Gln1420Lys
XM_011515753.1:c.3925C>A	XP_011514055.1:p.Gln1309Lys
XM_011515754.1:c.3925C>A	XP_011514056.1:p.Gln1309Lys
NM_000492.4:c.4168C>A MANE Select	NP_000483.3:p.Gln1390Lys