Canonical Allele Identifier: CA915945425

Gene: CFTR

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592211dup , CM000669.2:g.117592211dup	GRCh38
NC_000007.13:g.117232265dup , CM000669.1:g.117232265dup	GRCh37
NC_000007.12:g.117019501dup	NCBI36
NG_016465.4:g.131428dup , LRG_663:g.131428dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2044dup	ENSP00000497673.2:p.Thr682AsnfsTer7
ENST00000647978.2:c.*1758dup	ENSP00000497658.1:n.*1758dup
ENST00000649781.2:c.1861dup	ENSP00000497203.1:p.Thr621AsnfsTer7
ENST00000685018.2:c.2044dup	ENSP00000510194.2:p.Thr682AsnfsTer7
ENST00000687278.2:c.2044dup	ENSP00000509593.2:p.Thr682AsnfsTer7
ENST00000699585.1:c.2044dup	ENSP00000514456.1:p.Thr682AsnfsTer7
ENST00000699598.1:c.2044dup	ENSP00000514467.1:p.Thr682AsnfsTer7
ENST00000699599.1:c.2044dup	ENSP00000514468.1:p.Thr682AsnfsTer7
ENST00000699600.1:c.2044dup	ENSP00000514469.1:p.Thr682AsnfsTer7
ENST00000699601.1:c.*344dup	ENSP00000514470.1:n.*344dup
ENST00000699602.1:c.2044dup	ENSP00000514471.1:p.Thr682AsnfsTer7
ENST00000699604.1:c.*1868dup	ENSP00000514472.1:n.*1868dup
ENST00000699605.1:c.1618dup	ENSP00000514473.1:p.Thr540AsnfsTer7
ENST00000003084.11:c.2044dup MANE Select	ENSP00000003084.6:p.Thr682AsnfsTer7
ENST00000647978.1:c.*1758dup	ENSP00000497658.1:n.*1758dup
ENST00000648260.1:c.1402-10615dup	ENSP00000497957.1:n.1402-10615dup
ENST00000649406.1:c.1861dup	ENSP00000497965.1:p.Thr621AsnfsTer7
ENST00000649781.1:c.1861dup	ENSP00000497203.1:p.Thr621AsnfsTer7
ENST00000003084.10:c.2044dup	ENSP00000003084.6:p.Thr682AsnfsTer7
ENST00000426809.5:c.1954dup	ENSP00000389119.1:p.Thr652AsnfsTer7
NM_000492.3:c.2044dup , LRG_663t1:c.2044dup	NP_000483.3:p.Thr682AsnfsTer7
XM_011515751.1:c.2134dup	XP_011514053.1:p.Thr712AsnfsTer7
XM_011515752.1:c.2134dup	XP_011514054.1:p.Thr712AsnfsTer7
XM_011515753.1:c.1801dup	XP_011514055.1:p.Thr601AsnfsTer7
XM_011515754.1:c.1801dup	XP_011514056.1:p.Thr601AsnfsTer7
NM_000492.4:c.2044dup MANE Select	NP_000483.3:p.Thr682AsnfsTer7