Canonical Allele Identifier: CA457228113

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282549A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642495A>C , CM000669.2:g.117642495A>C	GRCh38
NC_000007.13:g.117282549A>C , CM000669.1:g.117282549A>C	GRCh37
NC_000007.12:g.117069785A>C	NCBI36
NG_016465.4:g.181712A>C , LRG_663:g.181712A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3575A>C	ENSP00000497673.2:p.Glu1192Ala
ENST00000647978.2:c.*3489A>C	ENSP00000497658.1:n.*3489A>C
ENST00000649781.2:c.3592A>C	ENSP00000497203.1:p.Arg1198=
ENST00000685018.2:c.3775A>C	ENSP00000510194.2:p.Arg1259=
ENST00000687278.2:c.*428A>C	ENSP00000509593.2:n.*428A>C
ENST00000699585.1:c.3575A>C	ENSP00000514456.1:p.Glu1192Ala
ENST00000699598.1:c.3775A>C	ENSP00000514467.1:p.Arg1259=
ENST00000699599.1:c.3775A>C	ENSP00000514468.1:p.Arg1259=
ENST00000699600.1:c.*436A>C	ENSP00000514469.1:n.*436A>C
ENST00000699601.1:c.*2150A>C	ENSP00000514470.1:n.*2150A>C
ENST00000699602.1:c.3769A>C	ENSP00000514471.1:p.Arg1257=
ENST00000699604.1:c.*3599A>C	ENSP00000514472.1:n.*3599A>C
ENST00000699605.1:c.3349A>C	ENSP00000514473.1:p.Arg1117=
ENST00000685018.1:c.523A>C	ENSP00000510194.1:p.Arg175=
ENST00000687278.1:c.1562A>C	ENSP00000509593.1:n.1562A>C
ENST00000689011.1:c.357A>C
ENST00000003084.11:c.3775A>C MANE Select	ENSP00000003084.6:p.Arg1259=
ENST00000647720.1:c.1225A>C
ENST00000649781.1:c.3592A>C	ENSP00000497203.1:p.Arg1198=
ENST00000003084.10:c.3775A>C	ENSP00000003084.6:p.Arg1259=
ENST00000426809.5:c.3685A>C	ENSP00000389119.1:p.Arg1229=
NM_000492.3:c.3775A>C , LRG_663t1:c.3775A>C	NP_000483.3:p.Arg1259=
XM_011515751.1:c.3865A>C	XP_011514053.1:p.Arg1289=
XM_011515752.1:c.3865A>C	XP_011514054.1:p.Arg1289=
XM_011515753.1:c.3532A>C	XP_011514055.1:p.Arg1178=
XM_011515754.1:c.3532A>C	XP_011514056.1:p.Arg1178=
NM_000492.4:c.3775A>C MANE Select	NP_000483.3:p.Arg1259=