Canonical Allele Identifier: CA457228140

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282555C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642501C>T , CM000669.2:g.117642501C>T	GRCh38
NC_000007.13:g.117282555C>T , CM000669.1:g.117282555C>T	GRCh37
NC_000007.12:g.117069791C>T	NCBI36
NG_016465.4:g.181718C>T , LRG_663:g.181718C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3581C>T	ENSP00000497673.2:p.Thr1194Ile
ENST00000647978.2:c.*3495C>T	ENSP00000497658.1:n.*3495C>T
ENST00000649781.2:c.3598C>T	ENSP00000497203.1:p.Leu1200=
ENST00000685018.2:c.3781C>T	ENSP00000510194.2:p.Leu1261=
ENST00000687278.2:c.*434C>T	ENSP00000509593.2:n.*434C>T
ENST00000699585.1:c.3581C>T	ENSP00000514456.1:p.Thr1194Ile
ENST00000699598.1:c.3781C>T	ENSP00000514467.1:p.Leu1261=
ENST00000699599.1:c.3781C>T	ENSP00000514468.1:p.Leu1261=
ENST00000699600.1:c.*442C>T	ENSP00000514469.1:n.*442C>T
ENST00000699601.1:c.*2156C>T	ENSP00000514470.1:n.*2156C>T
ENST00000699602.1:c.3775C>T	ENSP00000514471.1:p.Leu1259=
ENST00000699604.1:c.*3605C>T	ENSP00000514472.1:n.*3605C>T
ENST00000699605.1:c.3355C>T	ENSP00000514473.1:p.Leu1119=
ENST00000685018.1:c.529C>T	ENSP00000510194.1:p.Leu177=
ENST00000687278.1:c.1568C>T	ENSP00000509593.1:n.1568C>T
ENST00000689011.1:c.363C>T
ENST00000003084.11:c.3781C>T MANE Select	ENSP00000003084.6:p.Leu1261=
ENST00000647720.1:c.1231C>T
ENST00000649781.1:c.3598C>T	ENSP00000497203.1:p.Leu1200=
ENST00000003084.10:c.3781C>T	ENSP00000003084.6:p.Leu1261=
ENST00000426809.5:c.3691C>T	ENSP00000389119.1:p.Leu1231=
NM_000492.3:c.3781C>T , LRG_663t1:c.3781C>T	NP_000483.3:p.Leu1261=
XM_011515751.1:c.3871C>T	XP_011514053.1:p.Leu1291=
XM_011515752.1:c.3871C>T	XP_011514054.1:p.Leu1291=
XM_011515753.1:c.3538C>T	XP_011514055.1:p.Leu1180=
XM_011515754.1:c.3538C>T	XP_011514056.1:p.Leu1180=
NM_000492.4:c.3781C>T MANE Select	NP_000483.3:p.Leu1261=