Canonical Allele Identifier: CA457228057

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1154641
• ClinVar RCV Id: RCV001496721
• dbSNP Id: rs758818517
• MyVariant Identifiers: chr7:g.117282500C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642446C>G , CM000669.2:g.117642446C>G	GRCh38
NC_000007.13:g.117282500C>G , CM000669.1:g.117282500C>G	GRCh37
NC_000007.12:g.117069736C>G	NCBI36
NG_016465.4:g.181663C>G , LRG_663:g.181663C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3526C>G	ENSP00000497673.2:p.Leu1176Val
ENST00000647978.2:c.*3440C>G	ENSP00000497658.1:n.*3440C>G
ENST00000649781.2:c.3543C>G	ENSP00000497203.1:p.Leu1181=
ENST00000685018.2:c.3726C>G	ENSP00000510194.2:p.Leu1242=
ENST00000687278.2:c.*379C>G	ENSP00000509593.2:n.*379C>G
ENST00000699585.1:c.3526C>G	ENSP00000514456.1:p.Leu1176Val
ENST00000699598.1:c.3726C>G	ENSP00000514467.1:p.Leu1242=
ENST00000699599.1:c.3726C>G	ENSP00000514468.1:p.Leu1242=
ENST00000699600.1:c.*387C>G	ENSP00000514469.1:n.*387C>G
ENST00000699601.1:c.*2101C>G	ENSP00000514470.1:n.*2101C>G
ENST00000699602.1:c.3720C>G	ENSP00000514471.1:p.Leu1240=
ENST00000699604.1:c.*3550C>G	ENSP00000514472.1:n.*3550C>G
ENST00000699605.1:c.3300C>G	ENSP00000514473.1:p.Leu1100=
ENST00000685018.1:c.474C>G	ENSP00000510194.1:p.Leu158=
ENST00000687278.1:c.1513C>G	ENSP00000509593.1:n.1513C>G
ENST00000689011.1:c.308C>G
ENST00000003084.11:c.3726C>G MANE Select	ENSP00000003084.6:p.Leu1242=
ENST00000647720.1:c.1176C>G
ENST00000649781.1:c.3543C>G	ENSP00000497203.1:p.Leu1181=
ENST00000003084.10:c.3726C>G	ENSP00000003084.6:p.Leu1242=
ENST00000426809.5:c.3636C>G	ENSP00000389119.1:p.Leu1212=
NM_000492.3:c.3726C>G , LRG_663t1:c.3726C>G	NP_000483.3:p.Leu1242=
XM_011515751.1:c.3816C>G	XP_011514053.1:p.Leu1272=
XM_011515752.1:c.3816C>G	XP_011514054.1:p.Leu1272=
XM_011515753.1:c.3483C>G	XP_011514055.1:p.Leu1161=
XM_011515754.1:c.3483C>G	XP_011514056.1:p.Leu1161=
NM_000492.4:c.3726C>G MANE Select	NP_000483.3:p.Leu1242=