Canonical Allele Identifier: CA457230884

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305576T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665522T>C , CM000669.2:g.117665522T>C	GRCh38
NC_000007.13:g.117305576T>C , CM000669.1:g.117305576T>C	GRCh37
NC_000007.12:g.117092812T>C	NCBI36
NG_016465.4:g.204739T>C , LRG_663:g.204739T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*409T>C	ENSP00000497673.2:n.*409T>C
ENST00000647978.2:c.*3914T>C	ENSP00000497658.1:n.*3914T>C
ENST00000649781.2:c.4017T>C	ENSP00000497203.1:p.Cys1339=
ENST00000685018.2:c.*413T>C	ENSP00000510194.2:n.*413T>C
ENST00000687278.2:c.*853T>C	ENSP00000509593.2:n.*853T>C
ENST00000699585.1:c.*409T>C	ENSP00000514456.1:n.*409T>C
ENST00000699598.1:c.4200T>C	ENSP00000514467.1:p.Cys1400=
ENST00000699599.1:c.*413T>C	ENSP00000514468.1:n.*413T>C
ENST00000699600.1:c.*861T>C	ENSP00000514469.1:n.*861T>C
ENST00000699601.1:c.*2575T>C	ENSP00000514470.1:n.*2575T>C
ENST00000699602.1:c.4194T>C	ENSP00000514471.1:p.Cys1398=
ENST00000699604.1:c.*4024T>C	ENSP00000514472.1:n.*4024T>C
ENST00000699605.1:c.3774T>C	ENSP00000514473.1:p.Cys1258=
ENST00000699606.1:n.2368T>C
ENST00000685018.1:c.1064T>C	ENSP00000510194.1:n.1064T>C
ENST00000687278.1:c.1987T>C	ENSP00000509593.1:n.1987T>C
ENST00000689011.1:c.782T>C
ENST00000003084.11:c.4200T>C MANE Select	ENSP00000003084.6:p.Cys1400=
ENST00000647720.1:c.1650T>C
ENST00000649781.1:c.4017T>C	ENSP00000497203.1:p.Cys1339=
ENST00000003084.10:c.4200T>C	ENSP00000003084.6:p.Cys1400=
ENST00000426809.5:c.4110T>C	ENSP00000389119.1:p.Cys1370=
ENST00000600166.1:c.326T>C
NM_000492.3:c.4200T>C , LRG_663t1:c.4200T>C	NP_000483.3:p.Cys1400=
XM_011515751.1:c.4290T>C	XP_011514053.1:p.Cys1430=
XM_011515752.1:c.4290T>C	XP_011514054.1:p.Cys1430=
XM_011515753.1:c.3957T>C	XP_011514055.1:p.Cys1319=
XM_011515754.1:c.3957T>C	XP_011514056.1:p.Cys1319=
NM_000492.4:c.4200T>C MANE Select	NP_000483.3:p.Cys1400=