Canonical Allele Identifier: CA4451519

Gene: CFTR

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627765C>A , CM000669.2:g.117627765C>A	GRCh38
NC_000007.13:g.117267819C>A , CM000669.1:g.117267819C>A	GRCh37
NC_000007.12:g.117055055C>A	NCBI36
NG_016465.4:g.166982C>A , LRG_663:g.166982C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+195C>A	ENSP00000497673.2:n.3517+195C>A
ENST00000647978.2:c.*3426C>A	ENSP00000497658.1:n.*3426C>A
ENST00000649781.2:c.3529C>A	ENSP00000497203.1:p.Gln1177Lys
ENST00000685018.2:c.3712C>A	ENSP00000510194.2:p.Gln1238Lys
ENST00000687278.2:c.*365C>A	ENSP00000509593.2:n.*365C>A
ENST00000699585.1:c.3517+195C>A	ENSP00000514456.1:n.3517+195C>A
ENST00000699598.1:c.3712C>A	ENSP00000514467.1:p.Gln1238Lys
ENST00000699599.1:c.3712C>A	ENSP00000514468.1:p.Gln1238Lys
ENST00000699600.1:c.*373C>A	ENSP00000514469.1:n.*373C>A
ENST00000699601.1:c.*2087C>A	ENSP00000514470.1:n.*2087C>A
ENST00000699602.1:c.3706C>A	ENSP00000514471.1:p.Gln1236Lys
ENST00000699604.1:c.*3536C>A	ENSP00000514472.1:n.*3536C>A
ENST00000699605.1:c.3286C>A	ENSP00000514473.1:p.Gln1096Lys
ENST00000685018.1:c.460C>A	ENSP00000510194.1:p.Gln154Lys
ENST00000687278.1:c.1499C>A	ENSP00000509593.1:n.1499C>A
ENST00000689011.1:c.294C>A
ENST00000003084.11:c.3712C>A MANE Select	ENSP00000003084.6:p.Gln1238Lys
ENST00000647720.1:c.1167+195C>A
ENST00000648260.1:c.2494C>A	ENSP00000497957.1:p.Gln832Lys
ENST00000649406.1:c.3529C>A	ENSP00000497965.1:p.Gln1177Lys
ENST00000649781.1:c.3529C>A	ENSP00000497203.1:p.Gln1177Lys
ENST00000003084.10:c.3712C>A	ENSP00000003084.6:p.Gln1238Lys
ENST00000426809.5:c.3622C>A	ENSP00000389119.1:p.Gln1208Lys
ENST00000468795.1:c.537C>A
NM_000492.3:c.3712C>A , LRG_663t1:c.3712C>A	NP_000483.3:p.Gln1238Lys
XM_011515751.1:c.3802C>A	XP_011514053.1:p.Gln1268Lys
XM_011515752.1:c.3802C>A	XP_011514054.1:p.Gln1268Lys
XM_011515753.1:c.3469C>A	XP_011514055.1:p.Gln1157Lys
XM_011515754.1:c.3469C>A	XP_011514056.1:p.Gln1157Lys
NM_000492.4:c.3712C>A MANE Select	NP_000483.3:p.Gln1238Lys