Canonical Allele Identifier: CA368984506

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117306990A>G (hg19) ; chr7:g.117666936A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666936A>G , CM000669.2:g.117666936A>G	GRCh38
NC_000007.13:g.117306990A>G , CM000669.1:g.117306990A>G	GRCh37
NC_000007.12:g.117094226A>G	NCBI36
NG_016465.4:g.206153A>G , LRG_663:g.206153A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*480A>G	ENSP00000497673.2:n.*480A>G
ENST00000647978.2:c.*3985A>G	ENSP00000497658.1:n.*3985A>G
ENST00000649781.2:c.4088A>G	ENSP00000497203.1:p.Tyr1363Cys
ENST00000685018.2:c.*484A>G	ENSP00000510194.2:n.*484A>G
ENST00000687278.2:c.*896-666A>G	ENSP00000509593.2:n.*896-666A>G
ENST00000699585.1:c.*740A>G	ENSP00000514456.1:n.*740A>G
ENST00000699598.1:c.4264A>G	ENSP00000514467.1:p.Thr1422Ala
ENST00000699599.1:c.*484A>G	ENSP00000514468.1:n.*484A>G
ENST00000699600.1:c.*904-666A>G	ENSP00000514469.1:n.*904-666A>G
ENST00000699601.1:c.*2646A>G	ENSP00000514470.1:n.*2646A>G
ENST00000699602.1:c.4265A>G	ENSP00000514471.1:p.Tyr1422Cys
ENST00000699604.1:c.*4095A>G	ENSP00000514472.1:n.*4095A>G
ENST00000699605.1:c.3845A>G	ENSP00000514473.1:p.Tyr1282Cys
ENST00000699606.1:n.3782A>G
ENST00000685018.1:c.1135A>G	ENSP00000510194.1:n.1135A>G
ENST00000687278.1:c.2030-666A>G	ENSP00000509593.1:n.2030-666A>G
ENST00000689011.1:c.1113A>G
ENST00000003084.11:c.4271A>G MANE Select	ENSP00000003084.6:p.Tyr1424Cys
ENST00000647720.1:c.1721A>G
ENST00000649781.1:c.4088A>G	ENSP00000497203.1:p.Tyr1363Cys
ENST00000003084.10:c.4271A>G	ENSP00000003084.6:p.Tyr1424Cys
ENST00000426809.5:c.4181A>G	ENSP00000389119.1:p.Tyr1394Cys
ENST00000600166.1:c.368+1372A>G
NM_000492.3:c.4271A>G , LRG_663t1:c.4271A>G	NP_000483.3:p.Tyr1424Cys
XM_011515751.1:c.4361A>G	XP_011514053.1:p.Tyr1454Cys
XM_011515753.1:c.4028A>G	XP_011514055.1:p.Tyr1343Cys
XM_011515754.1:c.4028A>G	XP_011514056.1:p.Tyr1343Cys
NM_000492.4:c.4271A>G MANE Select	NP_000483.3:p.Tyr1424Cys