Canonical Allele Identifier: CA457231153

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267587G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627533G>T , CM000669.2:g.117627533G>T	GRCh38
NC_000007.13:g.117267587G>T , CM000669.1:g.117267587G>T	GRCh37
NC_000007.12:g.117054823G>T	NCBI36
NG_016465.4:g.166750G>T , LRG_663:g.166750G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3480G>T	ENSP00000497673.2:p.Val1160=
ENST00000647978.2:c.*3194G>T	ENSP00000497658.1:n.*3194G>T
ENST00000649781.2:c.3297G>T	ENSP00000497203.1:p.Val1099=
ENST00000685018.2:c.3480G>T	ENSP00000510194.2:p.Val1160=
ENST00000687278.2:c.*133G>T	ENSP00000509593.2:n.*133G>T
ENST00000699585.1:c.3480G>T	ENSP00000514456.1:p.Val1160=
ENST00000699598.1:c.3480G>T	ENSP00000514467.1:p.Val1160=
ENST00000699599.1:c.3480G>T	ENSP00000514468.1:p.Val1160=
ENST00000699600.1:c.*141G>T	ENSP00000514469.1:n.*141G>T
ENST00000699601.1:c.*1855G>T	ENSP00000514470.1:n.*1855G>T
ENST00000699602.1:c.3474G>T	ENSP00000514471.1:p.Val1158=
ENST00000699604.1:c.*3304G>T	ENSP00000514472.1:n.*3304G>T
ENST00000699605.1:c.3054G>T	ENSP00000514473.1:p.Val1018=
ENST00000685018.1:c.228G>T	ENSP00000510194.1:p.Val76=
ENST00000687278.1:c.1267G>T	ENSP00000509593.1:n.1267G>T
ENST00000689011.1:c.62G>T
ENST00000003084.11:c.3480G>T MANE Select	ENSP00000003084.6:p.Val1160=
ENST00000647720.1:c.1130G>T
ENST00000648260.1:c.2262G>T	ENSP00000497957.1:p.Val754=
ENST00000649406.1:c.3297G>T	ENSP00000497965.1:p.Val1099=
ENST00000649781.1:c.3297G>T	ENSP00000497203.1:p.Val1099=
ENST00000003084.10:c.3480G>T	ENSP00000003084.6:p.Val1160=
ENST00000426809.5:c.3390G>T	ENSP00000389119.1:p.Val1130=
ENST00000468795.1:c.305G>T
NM_000492.3:c.3480G>T , LRG_663t1:c.3480G>T	NP_000483.3:p.Val1160=
XM_011515751.1:c.3570G>T	XP_011514053.1:p.Val1190=
XM_011515752.1:c.3570G>T	XP_011514054.1:p.Val1190=
XM_011515753.1:c.3237G>T	XP_011514055.1:p.Val1079=
XM_011515754.1:c.3237G>T	XP_011514056.1:p.Val1079=
NM_000492.4:c.3480G>T MANE Select	NP_000483.3:p.Val1160=