Canonical Allele Identifier: CA457230154

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117254680A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614626A>T , CM000669.2:g.117614626A>T	GRCh38
NC_000007.13:g.117254680A>T , CM000669.1:g.117254680A>T	GRCh37
NC_000007.12:g.117041916A>T	NCBI36
NG_016465.4:g.153843A>T , LRG_663:g.153843A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3381A>T	ENSP00000497673.2:p.Gly1127=
ENST00000647978.2:c.*3095A>T	ENSP00000497658.1:n.*3095A>T
ENST00000649781.2:c.3198A>T	ENSP00000497203.1:p.Gly1066=
ENST00000685018.2:c.3381A>T	ENSP00000510194.2:p.Gly1127=
ENST00000687278.2:c.3381A>T	ENSP00000509593.2:p.Gly1127=
ENST00000699585.1:c.3381A>T	ENSP00000514456.1:p.Gly1127=
ENST00000699598.1:c.3381A>T	ENSP00000514467.1:p.Gly1127=
ENST00000699599.1:c.3381A>T	ENSP00000514468.1:p.Gly1127=
ENST00000699600.1:c.3381A>T	ENSP00000514469.1:p.Gly1127=
ENST00000699601.1:c.*1756A>T	ENSP00000514470.1:n.*1756A>T
ENST00000699602.1:c.3375A>T	ENSP00000514471.1:p.Gly1125=
ENST00000699604.1:c.*3205A>T	ENSP00000514472.1:n.*3205A>T
ENST00000699605.1:c.2955A>T	ENSP00000514473.1:p.Gly985=
ENST00000685018.1:c.129A>T	ENSP00000510194.1:p.Gly43=
ENST00000687278.1:c.972A>T	ENSP00000509593.1:p.Gly324=
ENST00000003084.11:c.3381A>T MANE Select	ENSP00000003084.6:p.Gly1127=
ENST00000647720.1:c.1031A>T
ENST00000648260.1:c.2163A>T	ENSP00000497957.1:p.Gly721=
ENST00000649406.1:c.3198A>T	ENSP00000497965.1:p.Gly1066=
ENST00000649781.1:c.3198A>T	ENSP00000497203.1:p.Gly1066=
ENST00000003084.10:c.3381A>T	ENSP00000003084.6:p.Gly1127=
ENST00000426809.5:c.3291A>T	ENSP00000389119.1:p.Gly1097=
ENST00000468795.1:c.206A>T
NM_000492.3:c.3381A>T , LRG_663t1:c.3381A>T	NP_000483.3:p.Gly1127=
XM_011515751.1:c.3471A>T	XP_011514053.1:p.Gly1157=
XM_011515752.1:c.3471A>T	XP_011514054.1:p.Gly1157=
XM_011515753.1:c.3138A>T	XP_011514055.1:p.Gly1046=
XM_011515754.1:c.3138A>T	XP_011514056.1:p.Gly1046=
NM_000492.4:c.3381A>T MANE Select	NP_000483.3:p.Gly1127=