Canonical Allele Identifier: CA368982494

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1737295
• ClinVar RCV Id: RCV002321214
• MyVariant Identifiers: chr7:g.117304820C>A (hg19) ; chr7:g.117664766C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*251C>A	ENSP00000497673.2:n.*251C>A
ENST00000647978.2:c.*3756C>A	ENSP00000497658.1:n.*3756C>A
ENST00000649781.2:c.3859C>A	ENSP00000497203.1:p.His1287Asn
ENST00000685018.2:c.*255C>A	ENSP00000510194.2:n.*255C>A
ENST00000687278.2:c.*695C>A	ENSP00000509593.2:n.*695C>A
ENST00000699585.1:c.*251C>A	ENSP00000514456.1:n.*251C>A
ENST00000699598.1:c.4042C>A	ENSP00000514467.1:p.His1348Asn
ENST00000699599.1:c.*255C>A	ENSP00000514468.1:n.*255C>A
ENST00000699600.1:c.*703C>A	ENSP00000514469.1:n.*703C>A
ENST00000699601.1:c.*2417C>A	ENSP00000514470.1:n.*2417C>A
ENST00000699602.1:c.4036C>A	ENSP00000514471.1:p.His1346Asn
ENST00000699604.1:c.*3866C>A	ENSP00000514472.1:n.*3866C>A
ENST00000699605.1:c.3616C>A	ENSP00000514473.1:p.His1206Asn
ENST00000699606.1:n.2210C>A
ENST00000685018.1:c.906C>A	ENSP00000510194.1:n.906C>A
ENST00000687278.1:c.1829C>A	ENSP00000509593.1:n.1829C>A
ENST00000689011.1:c.624C>A
ENST00000003084.11:c.4042C>A MANE Select	ENSP00000003084.6:p.His1348Asn
ENST00000647720.1:c.1492C>A
ENST00000649781.1:c.3859C>A	ENSP00000497203.1:p.His1287Asn
ENST00000003084.10:c.4042C>A	ENSP00000003084.6:p.His1348Asn
ENST00000426809.5:c.3952C>A	ENSP00000389119.1:p.His1318Asn
ENST00000600166.1:c.168C>A
NM_000492.3:c.4042C>A , LRG_663t1:c.4042C>A	NP_000483.3:p.His1348Asn
XM_011515751.1:c.4132C>A	XP_011514053.1:p.His1378Asn
XM_011515752.1:c.4132C>A	XP_011514054.1:p.His1378Asn
XM_011515753.1:c.3799C>A	XP_011514055.1:p.His1267Asn
XM_011515754.1:c.3799C>A	XP_011514056.1:p.His1267Asn
NM_000492.4:c.4042C>A MANE Select	NP_000483.3:p.His1348Asn