Canonical Allele Identifier: CA368975653

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282646A>T (hg19) ; chr7:g.117642592A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642592A>T , CM000669.2:g.117642592A>T	GRCh38
NC_000007.13:g.117282646A>T , CM000669.1:g.117282646A>T	GRCh37
NC_000007.12:g.117069882A>T	NCBI36
NG_016465.4:g.181809A>T , LRG_663:g.181809A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*81A>T	ENSP00000497673.2:n.*81A>T
ENST00000647978.2:c.*3586A>T	ENSP00000497658.1:n.*3586A>T
ENST00000649781.2:c.3689A>T	ENSP00000497203.1:p.Gln1230Leu
ENST00000685018.2:c.3872A>T	ENSP00000510194.2:p.Gln1291Leu
ENST00000687278.2:c.*525A>T	ENSP00000509593.2:n.*525A>T
ENST00000699585.1:c.*81A>T	ENSP00000514456.1:n.*81A>T
ENST00000699598.1:c.3872A>T	ENSP00000514467.1:p.Gln1291Leu
ENST00000699599.1:c.3872A>T	ENSP00000514468.1:p.Gln1291Leu
ENST00000699600.1:c.*533A>T	ENSP00000514469.1:n.*533A>T
ENST00000699601.1:c.*2247A>T	ENSP00000514470.1:n.*2247A>T
ENST00000699602.1:c.3866A>T	ENSP00000514471.1:p.Gln1289Leu
ENST00000699604.1:c.*3696A>T	ENSP00000514472.1:n.*3696A>T
ENST00000699605.1:c.3446A>T	ENSP00000514473.1:p.Gln1149Leu
ENST00000685018.1:c.620A>T	ENSP00000510194.1:p.Gln207Leu
ENST00000687278.1:c.1659A>T	ENSP00000509593.1:n.1659A>T
ENST00000689011.1:c.454A>T
ENST00000003084.11:c.3872A>T MANE Select	ENSP00000003084.6:p.Gln1291Leu
ENST00000647720.1:c.1322A>T
ENST00000649781.1:c.3689A>T	ENSP00000497203.1:p.Gln1230Leu
ENST00000003084.10:c.3872A>T	ENSP00000003084.6:p.Gln1291Leu
ENST00000426809.5:c.3782A>T	ENSP00000389119.1:p.Gln1261Leu
NM_000492.3:c.3872A>T , LRG_663t1:c.3872A>T	NP_000483.3:p.Gln1291Leu
XM_011515751.1:c.3962A>T	XP_011514053.1:p.Gln1321Leu
XM_011515752.1:c.3962A>T	XP_011514054.1:p.Gln1321Leu
XM_011515753.1:c.3629A>T	XP_011514055.1:p.Gln1210Leu
XM_011515754.1:c.3629A>T	XP_011514056.1:p.Gln1210Leu
NM_000492.4:c.3872A>T MANE Select	NP_000483.3:p.Gln1291Leu