Canonical Allele Identifier: CA368981925

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304764A>G (hg19) ; chr7:g.117664710A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664710A>G , CM000669.2:g.117664710A>G	GRCh38
NC_000007.13:g.117304764A>G , CM000669.1:g.117304764A>G	GRCh37
NC_000007.12:g.117092000A>G	NCBI36
NG_016465.4:g.203927A>G , LRG_663:g.203927A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*195A>G	ENSP00000497673.2:n.*195A>G
ENST00000647978.2:c.*3700A>G	ENSP00000497658.1:n.*3700A>G
ENST00000649781.2:c.3803A>G	ENSP00000497203.1:p.Glu1268Gly
ENST00000685018.2:c.*199A>G	ENSP00000510194.2:n.*199A>G
ENST00000687278.2:c.*639A>G	ENSP00000509593.2:n.*639A>G
ENST00000699585.1:c.*195A>G	ENSP00000514456.1:n.*195A>G
ENST00000699598.1:c.3986A>G	ENSP00000514467.1:p.Glu1329Gly
ENST00000699599.1:c.*199A>G	ENSP00000514468.1:n.*199A>G
ENST00000699600.1:c.*647A>G	ENSP00000514469.1:n.*647A>G
ENST00000699601.1:c.*2361A>G	ENSP00000514470.1:n.*2361A>G
ENST00000699602.1:c.3980A>G	ENSP00000514471.1:p.Glu1327Gly
ENST00000699604.1:c.*3810A>G	ENSP00000514472.1:n.*3810A>G
ENST00000699605.1:c.3560A>G	ENSP00000514473.1:p.Glu1187Gly
ENST00000699606.1:n.2154A>G
ENST00000685018.1:c.850A>G	ENSP00000510194.1:n.850A>G
ENST00000687278.1:c.1773A>G	ENSP00000509593.1:n.1773A>G
ENST00000689011.1:c.568A>G
ENST00000003084.11:c.3986A>G MANE Select	ENSP00000003084.6:p.Glu1329Gly
ENST00000647720.1:c.1436A>G
ENST00000649781.1:c.3803A>G	ENSP00000497203.1:p.Glu1268Gly
ENST00000003084.10:c.3986A>G	ENSP00000003084.6:p.Glu1329Gly
ENST00000426809.5:c.3896A>G	ENSP00000389119.1:p.Glu1299Gly
ENST00000600166.1:c.112A>G
NM_000492.3:c.3986A>G , LRG_663t1:c.3986A>G	NP_000483.3:p.Glu1329Gly
XM_011515751.1:c.4076A>G	XP_011514053.1:p.Glu1359Gly
XM_011515752.1:c.4076A>G	XP_011514054.1:p.Glu1359Gly
XM_011515753.1:c.3743A>G	XP_011514055.1:p.Glu1248Gly
XM_011515754.1:c.3743A>G	XP_011514056.1:p.Glu1248Gly
NM_000492.4:c.3986A>G MANE Select	NP_000483.3:p.Glu1329Gly