Canonical Allele Identifier: CA457228055

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282494G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642440G>T , CM000669.2:g.117642440G>T	GRCh38
NC_000007.13:g.117282494G>T , CM000669.1:g.117282494G>T	GRCh37
NC_000007.12:g.117069730G>T	NCBI36
NG_016465.4:g.181657G>T , LRG_663:g.181657G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3520G>T	ENSP00000497673.2:p.Gly1174Trp
ENST00000647978.2:c.*3434G>T	ENSP00000497658.1:n.*3434G>T
ENST00000649781.2:c.3537G>T	ENSP00000497203.1:p.Val1179=
ENST00000685018.2:c.3720G>T	ENSP00000510194.2:p.Val1240=
ENST00000687278.2:c.*373G>T	ENSP00000509593.2:n.*373G>T
ENST00000699585.1:c.3520G>T	ENSP00000514456.1:p.Gly1174Trp
ENST00000699598.1:c.3720G>T	ENSP00000514467.1:p.Val1240=
ENST00000699599.1:c.3720G>T	ENSP00000514468.1:p.Val1240=
ENST00000699600.1:c.*381G>T	ENSP00000514469.1:n.*381G>T
ENST00000699601.1:c.*2095G>T	ENSP00000514470.1:n.*2095G>T
ENST00000699602.1:c.3714G>T	ENSP00000514471.1:p.Val1238=
ENST00000699604.1:c.*3544G>T	ENSP00000514472.1:n.*3544G>T
ENST00000699605.1:c.3294G>T	ENSP00000514473.1:p.Val1098=
ENST00000685018.1:c.468G>T	ENSP00000510194.1:p.Val156=
ENST00000687278.1:c.1507G>T	ENSP00000509593.1:n.1507G>T
ENST00000689011.1:c.302G>T
ENST00000003084.11:c.3720G>T MANE Select	ENSP00000003084.6:p.Val1240=
ENST00000647720.1:c.1170G>T
ENST00000649781.1:c.3537G>T	ENSP00000497203.1:p.Val1179=
ENST00000003084.10:c.3720G>T	ENSP00000003084.6:p.Val1240=
ENST00000426809.5:c.3630G>T	ENSP00000389119.1:p.Val1210=
NM_000492.3:c.3720G>T , LRG_663t1:c.3720G>T	NP_000483.3:p.Val1240=
XM_011515751.1:c.3810G>T	XP_011514053.1:p.Val1270=
XM_011515752.1:c.3810G>T	XP_011514054.1:p.Val1270=
XM_011515753.1:c.3477G>T	XP_011514055.1:p.Val1159=
XM_011515754.1:c.3477G>T	XP_011514056.1:p.Val1159=
NM_000492.4:c.3720G>T MANE Select	NP_000483.3:p.Val1240=