Canonical Allele Identifier: CA368975297

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282603A>C (hg19) ; chr7:g.117642549A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642549A>C , CM000669.2:g.117642549A>C	GRCh38
NC_000007.13:g.117282603A>C , CM000669.1:g.117282603A>C	GRCh37
NC_000007.12:g.117069839A>C	NCBI36
NG_016465.4:g.181766A>C , LRG_663:g.181766A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*38A>C	ENSP00000497673.2:n.*38A>C
ENST00000647978.2:c.*3543A>C	ENSP00000497658.1:n.*3543A>C
ENST00000649781.2:c.3646A>C	ENSP00000497203.1:p.Ile1216Leu
ENST00000685018.2:c.3829A>C	ENSP00000510194.2:p.Ile1277Leu
ENST00000687278.2:c.*482A>C	ENSP00000509593.2:n.*482A>C
ENST00000699585.1:c.*38A>C	ENSP00000514456.1:n.*38A>C
ENST00000699598.1:c.3829A>C	ENSP00000514467.1:p.Ile1277Leu
ENST00000699599.1:c.3829A>C	ENSP00000514468.1:p.Ile1277Leu
ENST00000699600.1:c.*490A>C	ENSP00000514469.1:n.*490A>C
ENST00000699601.1:c.*2204A>C	ENSP00000514470.1:n.*2204A>C
ENST00000699602.1:c.3823A>C	ENSP00000514471.1:p.Ile1275Leu
ENST00000699604.1:c.*3653A>C	ENSP00000514472.1:n.*3653A>C
ENST00000699605.1:c.3403A>C	ENSP00000514473.1:p.Ile1135Leu
ENST00000685018.1:c.577A>C	ENSP00000510194.1:p.Ile193Leu
ENST00000687278.1:c.1616A>C	ENSP00000509593.1:n.1616A>C
ENST00000689011.1:c.411A>C
ENST00000003084.11:c.3829A>C MANE Select	ENSP00000003084.6:p.Ile1277Leu
ENST00000647720.1:c.1279A>C
ENST00000649781.1:c.3646A>C	ENSP00000497203.1:p.Ile1216Leu
ENST00000003084.10:c.3829A>C	ENSP00000003084.6:p.Ile1277Leu
ENST00000426809.5:c.3739A>C	ENSP00000389119.1:p.Ile1247Leu
NM_000492.3:c.3829A>C , LRG_663t1:c.3829A>C	NP_000483.3:p.Ile1277Leu
XM_011515751.1:c.3919A>C	XP_011514053.1:p.Ile1307Leu
XM_011515752.1:c.3919A>C	XP_011514054.1:p.Ile1307Leu
XM_011515753.1:c.3586A>C	XP_011514055.1:p.Ile1196Leu
XM_011515754.1:c.3586A>C	XP_011514056.1:p.Ile1196Leu
NM_000492.4:c.3829A>C MANE Select	NP_000483.3:p.Ile1277Leu