Canonical Allele Identifier: CA457231208

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267650A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627596A>T , CM000669.2:g.117627596A>T	GRCh38
NC_000007.13:g.117267650A>T , CM000669.1:g.117267650A>T	GRCh37
NC_000007.12:g.117054886A>T	NCBI36
NG_016465.4:g.166813A>T , LRG_663:g.166813A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+26A>T	ENSP00000497673.2:n.3517+26A>T
ENST00000647978.2:c.*3257A>T	ENSP00000497658.1:n.*3257A>T
ENST00000649781.2:c.3360A>T	ENSP00000497203.1:p.Pro1120=
ENST00000685018.2:c.3543A>T	ENSP00000510194.2:p.Pro1181=
ENST00000687278.2:c.*196A>T	ENSP00000509593.2:n.*196A>T
ENST00000699585.1:c.3517+26A>T	ENSP00000514456.1:n.3517+26A>T
ENST00000699598.1:c.3543A>T	ENSP00000514467.1:p.Pro1181=
ENST00000699599.1:c.3543A>T	ENSP00000514468.1:p.Pro1181=
ENST00000699600.1:c.*204A>T	ENSP00000514469.1:n.*204A>T
ENST00000699601.1:c.*1918A>T	ENSP00000514470.1:n.*1918A>T
ENST00000699602.1:c.3537A>T	ENSP00000514471.1:p.Pro1179=
ENST00000699604.1:c.*3367A>T	ENSP00000514472.1:n.*3367A>T
ENST00000699605.1:c.3117A>T	ENSP00000514473.1:p.Pro1039=
ENST00000685018.1:c.291A>T	ENSP00000510194.1:p.Pro97=
ENST00000687278.1:c.1330A>T	ENSP00000509593.1:n.1330A>T
ENST00000689011.1:c.125A>T
ENST00000003084.11:c.3543A>T MANE Select	ENSP00000003084.6:p.Pro1181=
ENST00000647720.1:c.1167+26A>T
ENST00000648260.1:c.2325A>T	ENSP00000497957.1:p.Pro775=
ENST00000649406.1:c.3360A>T	ENSP00000497965.1:p.Pro1120=
ENST00000649781.1:c.3360A>T	ENSP00000497203.1:p.Pro1120=
ENST00000003084.10:c.3543A>T	ENSP00000003084.6:p.Pro1181=
ENST00000426809.5:c.3453A>T	ENSP00000389119.1:p.Pro1151=
ENST00000468795.1:c.368A>T
NM_000492.3:c.3543A>T , LRG_663t1:c.3543A>T	NP_000483.3:p.Pro1181=
XM_011515751.1:c.3633A>T	XP_011514053.1:p.Pro1211=
XM_011515752.1:c.3633A>T	XP_011514054.1:p.Pro1211=
XM_011515753.1:c.3300A>T	XP_011514055.1:p.Pro1100=
XM_011515754.1:c.3300A>T	XP_011514056.1:p.Pro1100=
NM_000492.4:c.3543A>T MANE Select	NP_000483.3:p.Pro1181=