Canonical Allele Identifier: CA368975042

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282577A>T (hg19) ; chr7:g.117642523A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642523A>T , CM000669.2:g.117642523A>T	GRCh38
NC_000007.13:g.117282577A>T , CM000669.1:g.117282577A>T	GRCh37
NC_000007.12:g.117069813A>T	NCBI36
NG_016465.4:g.181740A>T , LRG_663:g.181740A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*12A>T	ENSP00000497673.2:n.*12A>T
ENST00000647978.2:c.*3517A>T	ENSP00000497658.1:n.*3517A>T
ENST00000649781.2:c.3620A>T	ENSP00000497203.1:p.Gln1207Leu
ENST00000685018.2:c.3803A>T	ENSP00000510194.2:p.Gln1268Leu
ENST00000687278.2:c.*456A>T	ENSP00000509593.2:n.*456A>T
ENST00000699585.1:c.*12A>T	ENSP00000514456.1:n.*12A>T
ENST00000699598.1:c.3803A>T	ENSP00000514467.1:p.Gln1268Leu
ENST00000699599.1:c.3803A>T	ENSP00000514468.1:p.Gln1268Leu
ENST00000699600.1:c.*464A>T	ENSP00000514469.1:n.*464A>T
ENST00000699601.1:c.*2178A>T	ENSP00000514470.1:n.*2178A>T
ENST00000699602.1:c.3797A>T	ENSP00000514471.1:p.Gln1266Leu
ENST00000699604.1:c.*3627A>T	ENSP00000514472.1:n.*3627A>T
ENST00000699605.1:c.3377A>T	ENSP00000514473.1:p.Gln1126Leu
ENST00000685018.1:c.551A>T	ENSP00000510194.1:p.Gln184Leu
ENST00000687278.1:c.1590A>T	ENSP00000509593.1:n.1590A>T
ENST00000689011.1:c.385A>T
ENST00000003084.11:c.3803A>T MANE Select	ENSP00000003084.6:p.Gln1268Leu
ENST00000647720.1:c.1253A>T
ENST00000649781.1:c.3620A>T	ENSP00000497203.1:p.Gln1207Leu
ENST00000003084.10:c.3803A>T	ENSP00000003084.6:p.Gln1268Leu
ENST00000426809.5:c.3713A>T	ENSP00000389119.1:p.Gln1238Leu
NM_000492.3:c.3803A>T , LRG_663t1:c.3803A>T	NP_000483.3:p.Gln1268Leu
XM_011515751.1:c.3893A>T	XP_011514053.1:p.Gln1298Leu
XM_011515752.1:c.3893A>T	XP_011514054.1:p.Gln1298Leu
XM_011515753.1:c.3560A>T	XP_011514055.1:p.Gln1187Leu
XM_011515754.1:c.3560A>T	XP_011514056.1:p.Gln1187Leu
NM_000492.4:c.3803A>T MANE Select	NP_000483.3:p.Gln1268Leu