Canonical Allele Identifier: CA457228082

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282539A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642485A>C , CM000669.2:g.117642485A>C	GRCh38
NC_000007.13:g.117282539A>C , CM000669.1:g.117282539A>C	GRCh37
NC_000007.12:g.117069775A>C	NCBI36
NG_016465.4:g.181702A>C , LRG_663:g.181702A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3565A>C	ENSP00000497673.2:p.Ser1189Arg
ENST00000647978.2:c.*3479A>C	ENSP00000497658.1:n.*3479A>C
ENST00000649781.2:c.3582A>C	ENSP00000497203.1:p.Ser1194=
ENST00000685018.2:c.3765A>C	ENSP00000510194.2:p.Ser1255=
ENST00000687278.2:c.*418A>C	ENSP00000509593.2:n.*418A>C
ENST00000699585.1:c.3565A>C	ENSP00000514456.1:p.Ser1189Arg
ENST00000699598.1:c.3765A>C	ENSP00000514467.1:p.Ser1255=
ENST00000699599.1:c.3765A>C	ENSP00000514468.1:p.Ser1255=
ENST00000699600.1:c.*426A>C	ENSP00000514469.1:n.*426A>C
ENST00000699601.1:c.*2140A>C	ENSP00000514470.1:n.*2140A>C
ENST00000699602.1:c.3759A>C	ENSP00000514471.1:p.Ser1253=
ENST00000699604.1:c.*3589A>C	ENSP00000514472.1:n.*3589A>C
ENST00000699605.1:c.3339A>C	ENSP00000514473.1:p.Ser1113=
ENST00000685018.1:c.513A>C	ENSP00000510194.1:p.Ser171=
ENST00000687278.1:c.1552A>C	ENSP00000509593.1:n.1552A>C
ENST00000689011.1:c.347A>C
ENST00000003084.11:c.3765A>C MANE Select	ENSP00000003084.6:p.Ser1255=
ENST00000647720.1:c.1215A>C
ENST00000649781.1:c.3582A>C	ENSP00000497203.1:p.Ser1194=
ENST00000003084.10:c.3765A>C	ENSP00000003084.6:p.Ser1255=
ENST00000426809.5:c.3675A>C	ENSP00000389119.1:p.Ser1225=
NM_000492.3:c.3765A>C , LRG_663t1:c.3765A>C	NP_000483.3:p.Ser1255=
XM_011515751.1:c.3855A>C	XP_011514053.1:p.Ser1285=
XM_011515752.1:c.3855A>C	XP_011514054.1:p.Ser1285=
XM_011515753.1:c.3522A>C	XP_011514055.1:p.Ser1174=
XM_011515754.1:c.3522A>C	XP_011514056.1:p.Ser1174=
NM_000492.4:c.3765A>C MANE Select	NP_000483.3:p.Ser1255=