Canonical Allele Identifier: CA368983538

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305557A>C (hg19) ; chr7:g.117665503A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665503A>C , CM000669.2:g.117665503A>C	GRCh38
NC_000007.13:g.117305557A>C , CM000669.1:g.117305557A>C	GRCh37
NC_000007.12:g.117092793A>C	NCBI36
NG_016465.4:g.204720A>C , LRG_663:g.204720A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*390A>C	ENSP00000497673.2:n.*390A>C
ENST00000647978.2:c.*3895A>C	ENSP00000497658.1:n.*3895A>C
ENST00000649781.2:c.3998A>C	ENSP00000497203.1:p.Asp1333Ala
ENST00000685018.2:c.*394A>C	ENSP00000510194.2:n.*394A>C
ENST00000687278.2:c.*834A>C	ENSP00000509593.2:n.*834A>C
ENST00000699585.1:c.*390A>C	ENSP00000514456.1:n.*390A>C
ENST00000699598.1:c.4181A>C	ENSP00000514467.1:p.Asp1394Ala
ENST00000699599.1:c.*394A>C	ENSP00000514468.1:n.*394A>C
ENST00000699600.1:c.*842A>C	ENSP00000514469.1:n.*842A>C
ENST00000699601.1:c.*2556A>C	ENSP00000514470.1:n.*2556A>C
ENST00000699602.1:c.4175A>C	ENSP00000514471.1:p.Asp1392Ala
ENST00000699604.1:c.*4005A>C	ENSP00000514472.1:n.*4005A>C
ENST00000699605.1:c.3755A>C	ENSP00000514473.1:p.Asp1252Ala
ENST00000699606.1:n.2349A>C
ENST00000685018.1:c.1045A>C	ENSP00000510194.1:n.1045A>C
ENST00000687278.1:c.1968A>C	ENSP00000509593.1:n.1968A>C
ENST00000689011.1:c.763A>C
ENST00000003084.11:c.4181A>C MANE Select	ENSP00000003084.6:p.Asp1394Ala
ENST00000647720.1:c.1631A>C
ENST00000649781.1:c.3998A>C	ENSP00000497203.1:p.Asp1333Ala
ENST00000003084.10:c.4181A>C	ENSP00000003084.6:p.Asp1394Ala
ENST00000426809.5:c.4091A>C	ENSP00000389119.1:p.Asp1364Ala
ENST00000600166.1:c.307A>C
NM_000492.3:c.4181A>C , LRG_663t1:c.4181A>C	NP_000483.3:p.Asp1394Ala
XM_011515751.1:c.4271A>C	XP_011514053.1:p.Asp1424Ala
XM_011515752.1:c.4271A>C	XP_011514054.1:p.Asp1424Ala
XM_011515753.1:c.3938A>C	XP_011514055.1:p.Asp1313Ala
XM_011515754.1:c.3938A>C	XP_011514056.1:p.Asp1313Ala
NM_000492.4:c.4181A>C MANE Select	NP_000483.3:p.Asp1394Ala