Canonical Allele Identifier: CA368981929

Gene: CFTR

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*195A>T	ENSP00000497673.2:n.*195A>T
ENST00000647978.2:c.*3700A>T	ENSP00000497658.1:n.*3700A>T
ENST00000649781.2:c.3803A>T	ENSP00000497203.1:p.Glu1268Val
ENST00000685018.2:c.*199A>T	ENSP00000510194.2:n.*199A>T
ENST00000687278.2:c.*639A>T	ENSP00000509593.2:n.*639A>T
ENST00000699585.1:c.*195A>T	ENSP00000514456.1:n.*195A>T
ENST00000699598.1:c.3986A>T	ENSP00000514467.1:p.Glu1329Val
ENST00000699599.1:c.*199A>T	ENSP00000514468.1:n.*199A>T
ENST00000699600.1:c.*647A>T	ENSP00000514469.1:n.*647A>T
ENST00000699601.1:c.*2361A>T	ENSP00000514470.1:n.*2361A>T
ENST00000699602.1:c.3980A>T	ENSP00000514471.1:p.Glu1327Val
ENST00000699604.1:c.*3810A>T	ENSP00000514472.1:n.*3810A>T
ENST00000699605.1:c.3560A>T	ENSP00000514473.1:p.Glu1187Val
ENST00000699606.1:n.2154A>T
ENST00000685018.1:c.850A>T	ENSP00000510194.1:n.850A>T
ENST00000687278.1:c.1773A>T	ENSP00000509593.1:n.1773A>T
ENST00000689011.1:c.568A>T
ENST00000003084.11:c.3986A>T MANE Select	ENSP00000003084.6:p.Glu1329Val
ENST00000647720.1:c.1436A>T
ENST00000649781.1:c.3803A>T	ENSP00000497203.1:p.Glu1268Val
ENST00000003084.10:c.3986A>T	ENSP00000003084.6:p.Glu1329Val
ENST00000426809.5:c.3896A>T	ENSP00000389119.1:p.Glu1299Val
ENST00000600166.1:c.112A>T
NM_000492.3:c.3986A>T , LRG_663t1:c.3986A>T	NP_000483.3:p.Glu1329Val
XM_011515751.1:c.4076A>T	XP_011514053.1:p.Glu1359Val
XM_011515752.1:c.4076A>T	XP_011514054.1:p.Glu1359Val
XM_011515753.1:c.3743A>T	XP_011514055.1:p.Glu1248Val
XM_011515754.1:c.3743A>T	XP_011514056.1:p.Glu1248Val
NM_000492.4:c.3986A>T MANE Select	NP_000483.3:p.Glu1329Val