Canonical Allele Identifier: CA368984553

Gene: CFTR

Linked Data

• gnomAD v4: 7-117666946-C-G
• MyVariant Identifiers: chr7:g.117307000C>G (hg19) ; chr7:g.117666946C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666946C>G , CM000669.2:g.117666946C>G	GRCh38
NC_000007.13:g.117307000C>G , CM000669.1:g.117307000C>G	GRCh37
NC_000007.12:g.117094236C>G	NCBI36
NG_016465.4:g.206163C>G , LRG_663:g.206163C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*490C>G	ENSP00000497673.2:n.*490C>G
ENST00000647978.2:c.*3995C>G	ENSP00000497658.1:n.*3995C>G
ENST00000649781.2:c.4098C>G	ENSP00000497203.1:p.Ile1366Met
ENST00000685018.2:c.*494C>G	ENSP00000510194.2:n.*494C>G
ENST00000687278.2:c.*896-656C>G	ENSP00000509593.2:n.*896-656C>G
ENST00000699585.1:c.*750C>G	ENSP00000514456.1:n.*750C>G
ENST00000699598.1:c.4274C>G	ENSP00000514467.1:p.Ser1425Cys
ENST00000699599.1:c.*494C>G	ENSP00000514468.1:n.*494C>G
ENST00000699600.1:c.*904-656C>G	ENSP00000514469.1:n.*904-656C>G
ENST00000699601.1:c.*2656C>G	ENSP00000514470.1:n.*2656C>G
ENST00000699602.1:c.4275C>G	ENSP00000514471.1:p.Ile1425Met
ENST00000699604.1:c.*4105C>G	ENSP00000514472.1:n.*4105C>G
ENST00000699605.1:c.3855C>G	ENSP00000514473.1:p.Ile1285Met
ENST00000699606.1:n.3792C>G
ENST00000685018.1:c.1145C>G	ENSP00000510194.1:n.1145C>G
ENST00000687278.1:c.2030-656C>G	ENSP00000509593.1:n.2030-656C>G
ENST00000689011.1:c.1123C>G
ENST00000003084.11:c.4281C>G MANE Select	ENSP00000003084.6:p.Ile1427Met
ENST00000647720.1:c.1731C>G
ENST00000649781.1:c.4098C>G	ENSP00000497203.1:p.Ile1366Met
ENST00000003084.10:c.4281C>G	ENSP00000003084.6:p.Ile1427Met
ENST00000426809.5:c.4191C>G	ENSP00000389119.1:p.Ile1397Met
ENST00000600166.1:c.368+1382C>G
NM_000492.3:c.4281C>G , LRG_663t1:c.4281C>G	NP_000483.3:p.Ile1427Met
XM_011515751.1:c.4371C>G	XP_011514053.1:p.Ile1457Met
XM_011515753.1:c.4038C>G	XP_011514055.1:p.Ile1346Met
XM_011515754.1:c.4038C>G	XP_011514056.1:p.Ile1346Met
NM_000492.4:c.4281C>G MANE Select	NP_000483.3:p.Ile1427Met