Canonical Allele Identifier: CA368982265

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304800A>C (hg19) ; chr7:g.117664746A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664746A>C , CM000669.2:g.117664746A>C	GRCh38
NC_000007.13:g.117304800A>C , CM000669.1:g.117304800A>C	GRCh37
NC_000007.12:g.117092036A>C	NCBI36
NG_016465.4:g.203963A>C , LRG_663:g.203963A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*231A>C	ENSP00000497673.2:n.*231A>C
ENST00000647978.2:c.*3736A>C	ENSP00000497658.1:n.*3736A>C
ENST00000649781.2:c.3839A>C	ENSP00000497203.1:p.Asp1280Ala
ENST00000685018.2:c.*235A>C	ENSP00000510194.2:n.*235A>C
ENST00000687278.2:c.*675A>C	ENSP00000509593.2:n.*675A>C
ENST00000699585.1:c.*231A>C	ENSP00000514456.1:n.*231A>C
ENST00000699598.1:c.4022A>C	ENSP00000514467.1:p.Asp1341Ala
ENST00000699599.1:c.*235A>C	ENSP00000514468.1:n.*235A>C
ENST00000699600.1:c.*683A>C	ENSP00000514469.1:n.*683A>C
ENST00000699601.1:c.*2397A>C	ENSP00000514470.1:n.*2397A>C
ENST00000699602.1:c.4016A>C	ENSP00000514471.1:p.Asp1339Ala
ENST00000699604.1:c.*3846A>C	ENSP00000514472.1:n.*3846A>C
ENST00000699605.1:c.3596A>C	ENSP00000514473.1:p.Asp1199Ala
ENST00000699606.1:n.2190A>C
ENST00000685018.1:c.886A>C	ENSP00000510194.1:n.886A>C
ENST00000687278.1:c.1809A>C	ENSP00000509593.1:n.1809A>C
ENST00000689011.1:c.604A>C
ENST00000003084.11:c.4022A>C MANE Select	ENSP00000003084.6:p.Asp1341Ala
ENST00000647720.1:c.1472A>C
ENST00000649781.1:c.3839A>C	ENSP00000497203.1:p.Asp1280Ala
ENST00000003084.10:c.4022A>C	ENSP00000003084.6:p.Asp1341Ala
ENST00000426809.5:c.3932A>C	ENSP00000389119.1:p.Asp1311Ala
ENST00000600166.1:c.148A>C
NM_000492.3:c.4022A>C , LRG_663t1:c.4022A>C	NP_000483.3:p.Asp1341Ala
XM_011515751.1:c.4112A>C	XP_011514053.1:p.Asp1371Ala
XM_011515752.1:c.4112A>C	XP_011514054.1:p.Asp1371Ala
XM_011515753.1:c.3779A>C	XP_011514055.1:p.Asp1260Ala
XM_011515754.1:c.3779A>C	XP_011514056.1:p.Asp1260Ala
NM_000492.4:c.4022A>C MANE Select	NP_000483.3:p.Asp1341Ala