Canonical Allele Identifier: CA368985184

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117307094A>G (hg19) ; chr7:g.117667040A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667040A>G , CM000669.2:g.117667040A>G	GRCh38
NC_000007.13:g.117307094A>G , CM000669.1:g.117307094A>G	GRCh37
NC_000007.12:g.117094330A>G	NCBI36
NG_016465.4:g.206257A>G , LRG_663:g.206257A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*584A>G	ENSP00000497673.2:n.*584A>G
ENST00000647978.2:c.*4089A>G	ENSP00000497658.1:n.*4089A>G
ENST00000649781.2:c.4192A>G	ENSP00000497203.1:p.Lys1398Glu
ENST00000685018.2:c.*588A>G	ENSP00000510194.2:n.*588A>G
ENST00000687278.2:c.*896-562A>G	ENSP00000509593.2:n.*896-562A>G
ENST00000699585.1:c.*844A>G	ENSP00000514456.1:n.*844A>G
ENST00000699598.1:c.*81A>G	ENSP00000514467.1:n.*81A>G
ENST00000699599.1:c.*588A>G	ENSP00000514468.1:n.*588A>G
ENST00000699600.1:c.*904-562A>G	ENSP00000514469.1:n.*904-562A>G
ENST00000699601.1:c.*2750A>G	ENSP00000514470.1:n.*2750A>G
ENST00000699602.1:c.4369A>G	ENSP00000514471.1:p.Lys1457Glu
ENST00000699604.1:c.*4199A>G	ENSP00000514472.1:n.*4199A>G
ENST00000699605.1:c.3949A>G	ENSP00000514473.1:p.Lys1317Glu
ENST00000699606.1:n.3886A>G
ENST00000685018.1:c.1239A>G	ENSP00000510194.1:n.1239A>G
ENST00000687278.1:c.2030-562A>G	ENSP00000509593.1:n.2030-562A>G
ENST00000689011.1:c.1217A>G
ENST00000003084.11:c.4375A>G MANE Select	ENSP00000003084.6:p.Lys1459Glu
ENST00000647720.1:c.1825A>G
ENST00000649781.1:c.4192A>G	ENSP00000497203.1:p.Lys1398Glu
ENST00000003084.10:c.4375A>G	ENSP00000003084.6:p.Lys1459Glu
ENST00000426809.5:c.4285A>G	ENSP00000389119.1:p.Lys1429Glu
ENST00000600166.1:c.368+1476A>G
NM_000492.3:c.4375A>G , LRG_663t1:c.4375A>G	NP_000483.3:p.Lys1459Glu
XM_011515751.1:c.4465A>G	XP_011514053.1:p.Lys1489Glu
XM_011515753.1:c.4132A>G	XP_011514055.1:p.Lys1378Glu
XM_011515754.1:c.4132A>G	XP_011514056.1:p.Lys1378Glu
NM_000492.4:c.4375A>G MANE Select	NP_000483.3:p.Lys1459Glu