Canonical Allele Identifier: CA368985071

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117307069T>G (hg19) ; chr7:g.117667015T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667015T>G , CM000669.2:g.117667015T>G	GRCh38
NC_000007.13:g.117307069T>G , CM000669.1:g.117307069T>G	GRCh37
NC_000007.12:g.117094305T>G	NCBI36
NG_016465.4:g.206232T>G , LRG_663:g.206232T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*559T>G	ENSP00000497673.2:n.*559T>G
ENST00000647978.2:c.*4064T>G	ENSP00000497658.1:n.*4064T>G
ENST00000649781.2:c.4167T>G	ENSP00000497203.1:p.Phe1389Leu
ENST00000685018.2:c.*563T>G	ENSP00000510194.2:n.*563T>G
ENST00000687278.2:c.*896-587T>G	ENSP00000509593.2:n.*896-587T>G
ENST00000699585.1:c.*819T>G	ENSP00000514456.1:n.*819T>G
ENST00000699598.1:c.*56T>G	ENSP00000514467.1:n.*56T>G
ENST00000699599.1:c.*563T>G	ENSP00000514468.1:n.*563T>G
ENST00000699600.1:c.*904-587T>G	ENSP00000514469.1:n.*904-587T>G
ENST00000699601.1:c.*2725T>G	ENSP00000514470.1:n.*2725T>G
ENST00000699602.1:c.4344T>G	ENSP00000514471.1:p.Phe1448Leu
ENST00000699604.1:c.*4174T>G	ENSP00000514472.1:n.*4174T>G
ENST00000699605.1:c.3924T>G	ENSP00000514473.1:p.Phe1308Leu
ENST00000699606.1:n.3861T>G
ENST00000685018.1:c.1214T>G	ENSP00000510194.1:n.1214T>G
ENST00000687278.1:c.2030-587T>G	ENSP00000509593.1:n.2030-587T>G
ENST00000689011.1:c.1192T>G
ENST00000003084.11:c.4350T>G MANE Select	ENSP00000003084.6:p.Phe1450Leu
ENST00000647720.1:c.1800T>G
ENST00000649781.1:c.4167T>G	ENSP00000497203.1:p.Phe1389Leu
ENST00000003084.10:c.4350T>G	ENSP00000003084.6:p.Phe1450Leu
ENST00000426809.5:c.4260T>G	ENSP00000389119.1:p.Phe1420Leu
ENST00000600166.1:c.368+1451T>G
NM_000492.3:c.4350T>G , LRG_663t1:c.4350T>G	NP_000483.3:p.Phe1450Leu
XM_011515751.1:c.4440T>G	XP_011514053.1:p.Phe1480Leu
XM_011515753.1:c.4107T>G	XP_011514055.1:p.Phe1369Leu
XM_011515754.1:c.4107T>G	XP_011514056.1:p.Phe1369Leu
NM_000492.4:c.4350T>G MANE Select	NP_000483.3:p.Phe1450Leu