Canonical Allele Identifier: CA457230294

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304801T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664747T>C , CM000669.2:g.117664747T>C	GRCh38
NC_000007.13:g.117304801T>C , CM000669.1:g.117304801T>C	GRCh37
NC_000007.12:g.117092037T>C	NCBI36
NG_016465.4:g.203964T>C , LRG_663:g.203964T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*232T>C	ENSP00000497673.2:n.*232T>C
ENST00000647978.2:c.*3737T>C	ENSP00000497658.1:n.*3737T>C
ENST00000649781.2:c.3840T>C	ENSP00000497203.1:p.Asp1280=
ENST00000685018.2:c.*236T>C	ENSP00000510194.2:n.*236T>C
ENST00000687278.2:c.*676T>C	ENSP00000509593.2:n.*676T>C
ENST00000699585.1:c.*232T>C	ENSP00000514456.1:n.*232T>C
ENST00000699598.1:c.4023T>C	ENSP00000514467.1:p.Asp1341=
ENST00000699599.1:c.*236T>C	ENSP00000514468.1:n.*236T>C
ENST00000699600.1:c.*684T>C	ENSP00000514469.1:n.*684T>C
ENST00000699601.1:c.*2398T>C	ENSP00000514470.1:n.*2398T>C
ENST00000699602.1:c.4017T>C	ENSP00000514471.1:p.Asp1339=
ENST00000699604.1:c.*3847T>C	ENSP00000514472.1:n.*3847T>C
ENST00000699605.1:c.3597T>C	ENSP00000514473.1:p.Asp1199=
ENST00000699606.1:n.2191T>C
ENST00000685018.1:c.887T>C	ENSP00000510194.1:n.887T>C
ENST00000687278.1:c.1810T>C	ENSP00000509593.1:n.1810T>C
ENST00000689011.1:c.605T>C
ENST00000003084.11:c.4023T>C MANE Select	ENSP00000003084.6:p.Asp1341=
ENST00000647720.1:c.1473T>C
ENST00000649781.1:c.3840T>C	ENSP00000497203.1:p.Asp1280=
ENST00000003084.10:c.4023T>C	ENSP00000003084.6:p.Asp1341=
ENST00000426809.5:c.3933T>C	ENSP00000389119.1:p.Asp1311=
ENST00000600166.1:c.149T>C
NM_000492.3:c.4023T>C , LRG_663t1:c.4023T>C	NP_000483.3:p.Asp1341=
XM_011515751.1:c.4113T>C	XP_011514053.1:p.Asp1371=
XM_011515752.1:c.4113T>C	XP_011514054.1:p.Asp1371=
XM_011515753.1:c.3780T>C	XP_011514055.1:p.Asp1260=
XM_011515754.1:c.3780T>C	XP_011514056.1:p.Asp1260=
NM_000492.4:c.4023T>C MANE Select	NP_000483.3:p.Asp1341=