Canonical Allele Identifier: CA457230198

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117254740A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614686A>T , CM000669.2:g.117614686A>T	GRCh38
NC_000007.13:g.117254740A>T , CM000669.1:g.117254740A>T	GRCh37
NC_000007.12:g.117041976A>T	NCBI36
NG_016465.4:g.153903A>T , LRG_663:g.153903A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3441A>T	ENSP00000497673.2:p.Val1147=
ENST00000647978.2:c.*3155A>T	ENSP00000497658.1:n.*3155A>T
ENST00000649781.2:c.3258A>T	ENSP00000497203.1:p.Val1086=
ENST00000685018.2:c.3441A>T	ENSP00000510194.2:p.Val1147=
ENST00000687278.2:c.3441A>T	ENSP00000509593.2:p.Val1147=
ENST00000699585.1:c.3441A>T	ENSP00000514456.1:p.Val1147=
ENST00000699598.1:c.3441A>T	ENSP00000514467.1:p.Val1147=
ENST00000699599.1:c.3441A>T	ENSP00000514468.1:p.Val1147=
ENST00000699600.1:c.3441A>T	ENSP00000514469.1:p.Val1147=
ENST00000699601.1:c.*1816A>T	ENSP00000514470.1:n.*1816A>T
ENST00000699602.1:c.3435A>T	ENSP00000514471.1:p.Val1145=
ENST00000699604.1:c.*3265A>T	ENSP00000514472.1:n.*3265A>T
ENST00000699605.1:c.3015A>T	ENSP00000514473.1:p.Val1005=
ENST00000685018.1:c.189A>T	ENSP00000510194.1:p.Val63=
ENST00000687278.1:c.1032A>T	ENSP00000509593.1:p.Val344=
ENST00000689011.1:c.23A>T
ENST00000003084.11:c.3441A>T MANE Select	ENSP00000003084.6:p.Val1147=
ENST00000647720.1:c.1091A>T
ENST00000648260.1:c.2223A>T	ENSP00000497957.1:p.Val741=
ENST00000649406.1:c.3258A>T	ENSP00000497965.1:p.Val1086=
ENST00000649781.1:c.3258A>T	ENSP00000497203.1:p.Val1086=
ENST00000003084.10:c.3441A>T	ENSP00000003084.6:p.Val1147=
ENST00000426809.5:c.3351A>T	ENSP00000389119.1:p.Val1117=
ENST00000468795.1:c.266A>T
NM_000492.3:c.3441A>T , LRG_663t1:c.3441A>T	NP_000483.3:p.Val1147=
XM_011515751.1:c.3531A>T	XP_011514053.1:p.Val1177=
XM_011515752.1:c.3531A>T	XP_011514054.1:p.Val1177=
XM_011515753.1:c.3198A>T	XP_011514055.1:p.Val1066=
XM_011515754.1:c.3198A>T	XP_011514056.1:p.Val1066=
NM_000492.4:c.3441A>T MANE Select	NP_000483.3:p.Val1147=