Canonical Allele Identifier: CA368984462

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1739193
• ClinVar RCV Id: RCV002329968
• MyVariant Identifiers: chr7:g.117306983C>G (hg19) ; chr7:g.117666929C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666929C>G , CM000669.2:g.117666929C>G	GRCh38
NC_000007.13:g.117306983C>G , CM000669.1:g.117306983C>G	GRCh37
NC_000007.12:g.117094219C>G	NCBI36
NG_016465.4:g.206146C>G , LRG_663:g.206146C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*473C>G	ENSP00000497673.2:n.*473C>G
ENST00000647978.2:c.*3978C>G	ENSP00000497658.1:n.*3978C>G
ENST00000649781.2:c.4081C>G	ENSP00000497203.1:p.Arg1361Gly
ENST00000685018.2:c.*477C>G	ENSP00000510194.2:n.*477C>G
ENST00000687278.2:c.*896-673C>G	ENSP00000509593.2:n.*896-673C>G
ENST00000699585.1:c.*733C>G	ENSP00000514456.1:n.*733C>G
ENST00000699598.1:c.4257C>G	ENSP00000514467.1:p.Cys1419Trp
ENST00000699599.1:c.*477C>G	ENSP00000514468.1:n.*477C>G
ENST00000699600.1:c.*904-673C>G	ENSP00000514469.1:n.*904-673C>G
ENST00000699601.1:c.*2639C>G	ENSP00000514470.1:n.*2639C>G
ENST00000699602.1:c.4258C>G	ENSP00000514471.1:p.Arg1420Gly
ENST00000699604.1:c.*4088C>G	ENSP00000514472.1:n.*4088C>G
ENST00000699605.1:c.3838C>G	ENSP00000514473.1:p.Arg1280Gly
ENST00000699606.1:n.3775C>G
ENST00000685018.1:c.1128C>G	ENSP00000510194.1:n.1128C>G
ENST00000687278.1:c.2030-673C>G	ENSP00000509593.1:n.2030-673C>G
ENST00000689011.1:c.1106C>G
ENST00000003084.11:c.4264C>G MANE Select	ENSP00000003084.6:p.Arg1422Gly
ENST00000647720.1:c.1714C>G
ENST00000649781.1:c.4081C>G	ENSP00000497203.1:p.Arg1361Gly
ENST00000003084.10:c.4264C>G	ENSP00000003084.6:p.Arg1422Gly
ENST00000426809.5:c.4174C>G	ENSP00000389119.1:p.Arg1392Gly
ENST00000600166.1:c.368+1365C>G
NM_000492.3:c.4264C>G , LRG_663t1:c.4264C>G	NP_000483.3:p.Arg1422Gly
XM_011515751.1:c.4354C>G	XP_011514053.1:p.Arg1452Gly
XM_011515753.1:c.4021C>G	XP_011514055.1:p.Arg1341Gly
XM_011515754.1:c.4021C>G	XP_011514056.1:p.Arg1341Gly
NM_000492.4:c.4264C>G MANE Select	NP_000483.3:p.Arg1422Gly