Canonical Allele Identifier: CA368982713

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304857T>G (hg19) ; chr7:g.117664803T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664803T>G , CM000669.2:g.117664803T>G	GRCh38
NC_000007.13:g.117304857T>G , CM000669.1:g.117304857T>G	GRCh37
NC_000007.12:g.117092093T>G	NCBI36
NG_016465.4:g.204020T>G , LRG_663:g.204020T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*288T>G	ENSP00000497673.2:n.*288T>G
ENST00000647978.2:c.*3793T>G	ENSP00000497658.1:n.*3793T>G
ENST00000649781.2:c.3896T>G	ENSP00000497203.1:p.Val1299Gly
ENST00000685018.2:c.*292T>G	ENSP00000510194.2:n.*292T>G
ENST00000687278.2:c.*732T>G	ENSP00000509593.2:n.*732T>G
ENST00000699585.1:c.*288T>G	ENSP00000514456.1:n.*288T>G
ENST00000699598.1:c.4079T>G	ENSP00000514467.1:p.Val1360Gly
ENST00000699599.1:c.*292T>G	ENSP00000514468.1:n.*292T>G
ENST00000699600.1:c.*740T>G	ENSP00000514469.1:n.*740T>G
ENST00000699601.1:c.*2454T>G	ENSP00000514470.1:n.*2454T>G
ENST00000699602.1:c.4073T>G	ENSP00000514471.1:p.Val1358Gly
ENST00000699604.1:c.*3903T>G	ENSP00000514472.1:n.*3903T>G
ENST00000699605.1:c.3653T>G	ENSP00000514473.1:p.Val1218Gly
ENST00000699606.1:n.2247T>G
ENST00000685018.1:c.943T>G	ENSP00000510194.1:n.943T>G
ENST00000687278.1:c.1866T>G	ENSP00000509593.1:n.1866T>G
ENST00000689011.1:c.661T>G
ENST00000003084.11:c.4079T>G MANE Select	ENSP00000003084.6:p.Val1360Gly
ENST00000647720.1:c.1529T>G
ENST00000649781.1:c.3896T>G	ENSP00000497203.1:p.Val1299Gly
ENST00000003084.10:c.4079T>G	ENSP00000003084.6:p.Val1360Gly
ENST00000426809.5:c.3989T>G	ENSP00000389119.1:p.Val1330Gly
ENST00000600166.1:c.205T>G
NM_000492.3:c.4079T>G , LRG_663t1:c.4079T>G	NP_000483.3:p.Val1360Gly
XM_011515751.1:c.4169T>G	XP_011514053.1:p.Val1390Gly
XM_011515752.1:c.4169T>G	XP_011514054.1:p.Val1390Gly
XM_011515753.1:c.3836T>G	XP_011514055.1:p.Val1279Gly
XM_011515754.1:c.3836T>G	XP_011514056.1:p.Val1279Gly
NM_000492.4:c.4079T>G MANE Select	NP_000483.3:p.Val1360Gly