Canonical Allele Identifier: CA368982496

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304820C>G (hg19) ; chr7:g.117664766C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664766C>G , CM000669.2:g.117664766C>G	GRCh38
NC_000007.13:g.117304820C>G , CM000669.1:g.117304820C>G	GRCh37
NC_000007.12:g.117092056C>G	NCBI36
NG_016465.4:g.203983C>G , LRG_663:g.203983C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*251C>G	ENSP00000497673.2:n.*251C>G
ENST00000647978.2:c.*3756C>G	ENSP00000497658.1:n.*3756C>G
ENST00000649781.2:c.3859C>G	ENSP00000497203.1:p.His1287Asp
ENST00000685018.2:c.*255C>G	ENSP00000510194.2:n.*255C>G
ENST00000687278.2:c.*695C>G	ENSP00000509593.2:n.*695C>G
ENST00000699585.1:c.*251C>G	ENSP00000514456.1:n.*251C>G
ENST00000699598.1:c.4042C>G	ENSP00000514467.1:p.His1348Asp
ENST00000699599.1:c.*255C>G	ENSP00000514468.1:n.*255C>G
ENST00000699600.1:c.*703C>G	ENSP00000514469.1:n.*703C>G
ENST00000699601.1:c.*2417C>G	ENSP00000514470.1:n.*2417C>G
ENST00000699602.1:c.4036C>G	ENSP00000514471.1:p.His1346Asp
ENST00000699604.1:c.*3866C>G	ENSP00000514472.1:n.*3866C>G
ENST00000699605.1:c.3616C>G	ENSP00000514473.1:p.His1206Asp
ENST00000699606.1:n.2210C>G
ENST00000685018.1:c.906C>G	ENSP00000510194.1:n.906C>G
ENST00000687278.1:c.1829C>G	ENSP00000509593.1:n.1829C>G
ENST00000689011.1:c.624C>G
ENST00000003084.11:c.4042C>G MANE Select	ENSP00000003084.6:p.His1348Asp
ENST00000647720.1:c.1492C>G
ENST00000649781.1:c.3859C>G	ENSP00000497203.1:p.His1287Asp
ENST00000003084.10:c.4042C>G	ENSP00000003084.6:p.His1348Asp
ENST00000426809.5:c.3952C>G	ENSP00000389119.1:p.His1318Asp
ENST00000600166.1:c.168C>G
NM_000492.3:c.4042C>G , LRG_663t1:c.4042C>G	NP_000483.3:p.His1348Asp
XM_011515751.1:c.4132C>G	XP_011514053.1:p.His1378Asp
XM_011515752.1:c.4132C>G	XP_011514054.1:p.His1378Asp
XM_011515753.1:c.3799C>G	XP_011514055.1:p.His1267Asp
XM_011515754.1:c.3799C>G	XP_011514056.1:p.His1267Asp
NM_000492.4:c.4042C>G MANE Select	NP_000483.3:p.His1348Asp