Canonical Allele Identifier: CA368984500

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117306989T>G (hg19) ; chr7:g.117666935T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666935T>G , CM000669.2:g.117666935T>G	GRCh38
NC_000007.13:g.117306989T>G , CM000669.1:g.117306989T>G	GRCh37
NC_000007.12:g.117094225T>G	NCBI36
NG_016465.4:g.206152T>G , LRG_663:g.206152T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*479T>G	ENSP00000497673.2:n.*479T>G
ENST00000647978.2:c.*3984T>G	ENSP00000497658.1:n.*3984T>G
ENST00000649781.2:c.4087T>G	ENSP00000497203.1:p.Tyr1363Asp
ENST00000685018.2:c.*483T>G	ENSP00000510194.2:n.*483T>G
ENST00000687278.2:c.*896-667T>G	ENSP00000509593.2:n.*896-667T>G
ENST00000699585.1:c.*739T>G	ENSP00000514456.1:n.*739T>G
ENST00000699598.1:c.4263T>G	ENSP00000514467.1:p.Ser1421Arg
ENST00000699599.1:c.*483T>G	ENSP00000514468.1:n.*483T>G
ENST00000699600.1:c.*904-667T>G	ENSP00000514469.1:n.*904-667T>G
ENST00000699601.1:c.*2645T>G	ENSP00000514470.1:n.*2645T>G
ENST00000699602.1:c.4264T>G	ENSP00000514471.1:p.Tyr1422Asp
ENST00000699604.1:c.*4094T>G	ENSP00000514472.1:n.*4094T>G
ENST00000699605.1:c.3844T>G	ENSP00000514473.1:p.Tyr1282Asp
ENST00000699606.1:n.3781T>G
ENST00000685018.1:c.1134T>G	ENSP00000510194.1:n.1134T>G
ENST00000687278.1:c.2030-667T>G	ENSP00000509593.1:n.2030-667T>G
ENST00000689011.1:c.1112T>G
ENST00000003084.11:c.4270T>G MANE Select	ENSP00000003084.6:p.Tyr1424Asp
ENST00000647720.1:c.1720T>G
ENST00000649781.1:c.4087T>G	ENSP00000497203.1:p.Tyr1363Asp
ENST00000003084.10:c.4270T>G	ENSP00000003084.6:p.Tyr1424Asp
ENST00000426809.5:c.4180T>G	ENSP00000389119.1:p.Tyr1394Asp
ENST00000600166.1:c.368+1371T>G
NM_000492.3:c.4270T>G , LRG_663t1:c.4270T>G	NP_000483.3:p.Tyr1424Asp
XM_011515751.1:c.4360T>G	XP_011514053.1:p.Tyr1454Asp
XM_011515753.1:c.4027T>G	XP_011514055.1:p.Tyr1343Asp
XM_011515754.1:c.4027T>G	XP_011514056.1:p.Tyr1343Asp
NM_000492.4:c.4270T>G MANE Select	NP_000483.3:p.Tyr1424Asp